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Literatur
Eto, K., S. M.Sumi, T. D. Bird et al., Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss. Sinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family ?. Arch. Neurol. 47 (1990) 968–974.
Takiyama,Y., S. Ikemoto, Y.Tanaka et al., A large Japanese family with Machado-Joseph disease: Clinical and genetic studies. Acta Neurol.Scand. 79 (1989) 214–222.
Takiyama, Y., M.Nishizawa, H.Tanaka et al., The gene for Machado-Joseph disease maps to human chromosome 14q. Nat.Genet. 4 (1993) 300–304.
Felman, A. H. and J. A. Kirkpatrickjun., Madelung’s deformity: Observation in 17 patients. Radiology 93 (1969) 1037–1042.
Imrie, S. W., J. King and A. R. Henderson, Macroamylasaemia: a report of two cases. Scott. Med.J. 18 (1973) 188–191.
Fine, J. M., J. Y. Muller, D. Rochu et al., Waldenström’s macroglobulinemia in monozygotic twins. Acta Med.Scand. 220 (1986) 369–373.
Palka, G., A. Spandano, L.Geraci et al., Chromosome changes in 19 patients with Waldenström’s macroglobulinemia. Cancer Genet. Cytogenet. 29 (1987) 261–269.
Reynoso, M. C., A. Hernández, L. A. Lizcano-Gil, A. Sarralde, M. C. Abreu, Z. Nazará and R. Fragoso, Autosomal dominant congenital macroglossia: Further delineation of the syndrome. Genetic Counselling 5 (1994) 151–154.
DiLiberti, J. H., Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes. J. Med.Genet. 29 (1992) 46–49.
Fryns, J. P., A. M. Deremaeker, J. Haegeman and H. van den Berghe, Mental retardation, maerocephaly, short stature and craniofacial dysmorphism in three sisters. A new entity among the mental retardation-macrocephaly syndromes ? Clin. Genet. 33 (1988) 293–298.
Gooskens, R. H. J.M., J. Willemse, J. B. Bijlsma and P. W. Hanlo, Megalencephaly: Definition and classification. Brain Develop. 10 (1988) 1–7.
Gorlin, R. J., M. M. Cohen, L. M. Condon and B. A. Burke, Banayan-Riley-Ruvalcaba syndrome. Am. J. Med. Genet. 44 (1992) 307–314.
Forsman, K., C. Graff, S. Nordström, S. Johansson, E. Westmark, E. Lundgren, K.-H. Gustavson, C. Wadelius and G. Holmgren, The gene for Best’s macular dystrophy is located at 11q13 in a Swedish family. Clin.Genet. 42 (1992) 156–159.
Grüning, G., J. M. Millan, M. Meins, M. Beneyto, M. Caballero, E. Apfelstedt-Sylla, R. Bosch, E. Zrenner, F. Prieto and A. Gal, Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. Hum.Mutat. 3 (1994) 321–323.
Weber, B. H. F., D. Walker, B. Müller and L. Mar, BEST’S vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity. Genomics 20 (1994) 267–274.
Weber, B. H. F., G. Vogt, W. Wolz, E. J. Ives and C. C. Ewing, SORSBY’S fundus dystrophy is genetically linked to chromosome 22ql3-qter. Nature Genetics. 7 (1994) 158–161.
Wells, J., J. Wroblewski, J. Keen et al., Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat.Genet. 3 (1993) 213–218.
Meyers, S. M. and A. A. Zachary, Monozygotic twins with age related macular degeneration. Arch.Ophthalm. 106 (1988) 651–653.
Thomson, E. M. and M. Baraitser, SORSBY syndrome: a report on further generations of the original family. J.Med.Genet. 25 (1988) 313–321.
Kastl, I., I. Anton-Lamprecht and P. Gamborg Nielsen, Hereditary palmoplantar keratosis of the GAMBORG-NIELSEN type and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. Arch. Dermatol. 282 (1990) 363–370.
Salamon, T., B. Ceszarović, M. Nardelli-Kovaćić und U.W. Schnyder, Die Meleda-Krankheit, eine Akroerythrodermie. Z. Hautkrh. 57 (1983) 580–586.
Salamon, T., Hairgrowth over the thenar and the sole in Mal de Meleda. Acta Derm.Venerol. 65 (1985) 352–353.
Malouf, J., H. Ratl and V. M. Ter Kaloustian, Apical hypertrophic cardiomyopathy in a father and daughter. Am.J.Med. Genet. 22 (1985) 75–80.
Narahara, K., M. Kamada, Y. Takahashi et al., Case of ovarian dysgenesia and dilated cardiomyopathy supports existence of MALOUF syndrome. Am. J. Med. Genet. 44 (1992) 369–373.
Stalker, H. J. and D. Chitayat, Familial intestinal malrotation with midgut volvulus and facial anomalies: A disorder involving a gene controlling the normal gut rotation ? Am. J.Med. Genet. 44 (1992) 46–47.
Cooper, A., J. E. Wraith, W. J. Savage et al., β-Mannosidose deficiency in a female infant with epileptic encephalopathy. J.Inherit.Metab.Dis. 14 (1991) 18–21.
Jansen, P. H. P., H. C. Schoonderwaldt, W. O. Renier et al., Mannosidosis: A study of two patients, presenting clinical heterogeneity. Clin.Neurol. Neursurg. 89 (1987) 185–192.
Petushkova, N. A., T. S. Ivleva and Y. M. Vozniy, Human chorionic β-mannosidase: Comparison with β-mannosidase from human cultured fibroblasts. Prenatal Diagn. 12 (1992) 835–839.
Poenary, L., S. Akli, F. Rocchicciolo, P. Eydoux and P. Zamet, Human β-mannosidosis: a 3-year-old boy with speech impairment and emotional instability. Clin.Genet. 41 (1992) 331–334.
Schrander-Stumpel, C., C. de Die-Smuders, M. Krom, S. Schyns-Fleuren, B. Hamel, D. Jaeken and J.-P. Fryns, MARDEN-WALKER syndrome: case report, literature review and nosologic discussion. Clin Genet. 43 (1993) 303–308.
Williams, M. S., K. D. Josephson and D. S. Wargowski, MARDEN-WALKER Syndrome: a case report and critical review of the literature. Clin.Dysmorph. 2 (1993) 211–219.
Boilleau, C., G. Jondeau, M.-C. Babron, M. Coulon, J.-A. Alexandre, L. Sakai, J. Melki, G. Delorme, O. Dubourg, C. Bonaiti-Pellié, J.-P. Bourdarias and C. Lunien, Autosomal dominant MARFAN-like connective-tissue disorder with aortic dilatation and skeletal anomalies not linked to the fibrillin genes. Am.J.Hum. Genet. 53 (1993) 46–54.
Byers, P. H., Second International Symposium on the MARFAN Syndrome. Human Mutation 2 (1993) 80–81.
Collod, G., M.-C. Babron, G. Jondeau, M. Coulon et al., A second locus for MARFAN syndrome maps to chromosome 3p24.2-p25. Nature Genetics 8 (1994) 264–268.
Die-Smulders, C. de and J. P. Fryns, Dysmorphology report: Characteristic facial dysmorphism, arachnodactyly and mental handicap in two unrelated girls: A distinct MCA/MR syndrome ? Genetic Counselling 4 (1993) 165–167.
Houlston, R. S., S. Iragggori, V. Murday, M. Scrine, K. Macdermot, J. Slack and L. Rees, Microcephaly, focal segmental glomerulonephritis and MARFANoid habitus in two sibs. Clin. Dysmorph. 1 (1992) 111–113.
Maslen, C. L., G. M. Corson, B. K. Maddox, R.W. Glanville and L.Y. Sakai, Partial sequence of a candidate gene for the MARFAN syndrome. Nature 352 (1991) 334–352.
Raghunath, M., A. Superti-Furga, M. Godfrey and B. Steinmann, Decreased extracellular deposition of fibrillin and decorin in neonatal MARFAN syndrome fibroblasts. Hum.Genet. 90 (1993) 511–515.
Rantamäki, T., L. Lönnqvist, L. Karttunen, K. Kainulainen and L. Peltonen, DNA diagnostics of the MARFAN syndrome: application of amplified polymorphic markers. Eur.J. Hum.Genet. 2 (1994) 66–75.
Tsipouras, P., MARFAN syndrome: a mystery solved. J.Med. Genet. 29 (1992) 73–74.
Superneau, D. W., W. Wertelecki, H. Zellweger and F. Bastian, Myopathy in MARINESCO-SJÖGREN Syndrome. Eur.Neurol. 26 (1987) 8–16.
Walker,P. D., M. G. Blitzer and E. Shapira, MARINESCO-SJÖGREN syndrome: evidence for a lysosomal storage disorder. Neurology 35 (1985) 415–419.
Tentscher, M., P. Brühl, G. Libera, Markschwammniere: Pathogenese, Klinik, Diagnostik, Therapie. Med.Klin. 75 (1980) 307–315.
Ahmad, N.N., D.M. McDonald-McGinn, E.H. Zackai, R.G. Knowlton, D. LaRossa, J. Di Mascio and D.J. Prockop, A second mutation in the type II procollagen gene (COL2AI) causing STICKLER syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am.J.Hum.Genet. 52 (1993) 39–45.
Al Gazali, L.I. and W. Lytle, Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literature. Clin.Dysmorphol. 3 (1994) 46–54.
Körkkö, J., P. Ritvaniemi, L. Haataja, H. Kääriäinen, K.I. Kivirikko, D.J. Prockop and L. Ala-Kokko, Mutation in type II procollagen (COL2AI) that substitutes aspartate for glycine αI-67 and that causes cataracts and retinal detachment: Evidence for molecular heterogeneity in the WAGNER syndrome and the STICKLER syndrome (arthro-ophthalmo- pathy). Am.J.Hum. Genet. 53 (1993) 55–61.
Kronwith, S.D., G. Quinn, D.M. McDonald et al., STICKLER’S syndrome in the cleft palate clinic. J.Pediatr.Ophthal.Strabismus 27 (1990) 265–267.
Butler, M.G., T. Mangrum, R. Gupta and D.N. Singh, A 15-item checklist for Screening mentally retarded males for the fragile X Syndrome. Clin.Genet. 39 (1991) 347–354.
Devys, D., Y. Lutz, N. Rouyer et al., The FMR-1 protein is cytoplasmic, most abundant in neu- rons and appears normal in carriers of a fragile X premutation. Nat.Genet. 4 (1993) 335–340.
Rousseau, F., D. Heitz, J. Tarleton, J. Maepherson, H. Mqalmgren, N. Dahl, A. Barnicot, C. Mathew, E. Mornet, I. Tejada et al., A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2,253 cases. Am.J.Hum.Genet. 55 (1994) 225–237.
Chong, A.Y.H., G.B. Ismail and T.S. Hoon, The MAY-HEGGLIN anomaly: family report and review. Ann.Acad.Med.Singapore 4 (1975) 279–283.
Battin, J., D. Lacombe and J.J. Leng, Familial occurrence of hereditary renal adysplasia with MÜLLERian anomalies. Clin.Genet. 43 (1993) 23–24.
Cassia, M., Pavanello de, A. Eigier and P.A. Otto, Relationship between MAYER-V.ROKITANSKY-KÜSTER (MRK) anomaly and hereditary renal adysplasia (HRA) Am. J. Med. Genet. 29 (1988) 945–949.
Heidenreich,W., Genitale und extragenitale Fehlbildungen beim MAYER-ROKITANSKY-KÜSTER-Syndrom. Dtsch.Med.Wschr. 113 (1988) 1092–1096.
Strübbe, E.H., S.W.R.J.Cremers, W.N.P.Willemsen, R.Rolland and C.J.RThijn, The MAYER- ROKITANSKY-KÜSTER-HAUSER (MRKH) syndrome without and with associated features: two separate entities ? Clin.Dysmorphology 3 (1994) 192–199.
Hardie, R.J., Acanthosis and neurological impairment. A review. Q.J.Med. 77 (1989) 291–306
Ho, M.F., A.P. Monaco, L.A.J. Blonden G.J.B. Ommen, N.A. Affara, M.A. Ferguson-Smith and H. Lehrach, Fine mapping of the MCLEOD locus (XK) to a 150-380-kb region in Xp21. Am.J.Hum. Genet. 50 (1992) 317–330.
Farag. T.I., R. Usha, R.Uma, S.A. Mady, K.A1- Nagdy, and M. H.El-Badramany, Phenotypic variability in MECKEL-GRUBER syndrome. Clin.Genet. 38 (1990) 176–179.
Heriot, R., L.A. Hallam and E.S. Gray, DANDY- WALKER malformation in the MECKEL syndrome. Am. J. Med. Genet. 39 (1991) 207–210.
Moerman, Ph., P. Pauwels, K. Vandenberghe, J.M. Lauweryns and J.P. Fryns, GOLDSTON syndrome reconsidered. Genetic Counselling 4 (1993) 97–102.
Walpole, I.R., J. Goldblatt, A. Hockey and S. Knowles, DANDY-WALKER malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or MECKEL syndrome ? Am. J. Med. Genet. 39 (1991) 294–298.
Anneren, G., S. Meurling and L. Olsen, Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. Am. J. Med. Genet. 41 (1991) 251–254.
Camilleri, M., L.D. Carbone and M.D.Schuffler, Familial enteric neuropathy with pseudoobstruction. Digest.Dis.Sci 36 (1991) 1168–1171.
Gibbs, M.L., A.O.M. Wilkie, R.M. Winter, D. Taylor and M. Baraitser, Megalocornea, developmental retardation and dysmorphic features: two further patients. Clin.Dysmorphol. 3 (1994) 132–138.
Mackey, D.A., R.G. Buttery, G.M. Wise and M.J. Denton, Description of X-linked megalocornea with identification of the gene locus. Arch.Ophthal. 109 (1991) 829–833.
Santalaya, J.M., A. Grijalbo, A. Delgado and G. Erdozain, Additional case of NEUHAUSER megalocornea and mental retardation syndrome with congenital hypotonia. Am.J.Med. Genet. 43 (1992) 609–611.
Verloes, A., H. Journel, C. Elmer et al., Heterogeneity versus variability in megalocornea-men-tal retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types. Am. J. Med. Genet. 46 (1993) 132–137.
Cannon-Albright, L.A., D.E. Goldgar, L.J. Meyer et al., Assignment of a locus for familial melanoma, MLM to chromosome 9pl3-p22. Science 258 (1992) 1148–1152.
Holland, E.A., S.C. Beatson, B.G. Edwards et al., Loss of heterozygosity and homozygous deletion on 9p21–22 in melanoma. Oncogene 9 (1994) 1361–1365.
Lynch, H.T., R.M. Fusaro, A.A. Sandberg et al., Chromosome instability and the FAMM syndrome. Cancer Genet.Cytogenet. 71 (1993) 27–39.
Schnyder, U.W., B.V. Schneider, O. Maie, V. Groh und Ch. Sigg, Kongenitale Naevuszellnaevi als Melanompraekursoren der Haut. Mschr.Kinderheilk. 135 (1987) 259–264.
Ellis, D.S., W.H. Spencer and C.M. Stephenson, Congenital neurocutaneous melanosis with metastatic orbital malignant melanoma. Ophthalmology 93 (1986) 1639–1642.
Debao, L. and L. Ting, Familial progressive hyperpigmentation: a family study in China. Brit.J.Derm. 125 (1991) 607.
Butenschoen, H., MELKERSSON-ROSENTHAL-Syndrom im Kindesalter. Hautarzt 27 (1976) 544–547.
Smeets, E., J.P. Fryns and H. Van den Berghe, MELKERSSON-ROSENTHAL Syndrome and de novo autosomal t(9;21)(p11p11) translocation. Clin.Genet. 45 (1994) 323–324.
Donnenfeld, A.E., K.A. Conrad, N.R. Roberts et al., MELNICK-NEEDLES Syndrome on males: A lethal multiple congenital anomalies Syndrome. Am. J. Med. Genet. 27 (1987) 159–173.
Exner, G.U., Serpentine fibula — polycystic Syndrome. A variant of the MELNICK-NEEDLES Syndrome or a distinct entity ? Eur.J.Pediat. 147 (1988) 544–546.
Fryns, J.P., A.Schinzel and H. van den Berghe, Hyperlaxity in males with MELNIK-NEEDLES syndrome. Am. J. Med. Genet. 29 (1988) 607–611.
Butenschoen, H., MELKERSSON-ROSENTHAL-Syndrom im Kindesalter. Hautarzt 27 (1976) 544–547.
Smeets, E., J.P. Fryns and H. Van den Berghe, MELKERSSON-ROSENTHAL syndrome and de novo autosomal t(9;21)(pl lpl 1) translocation. Clin.Genet. 45 (1994) 323–324.
Donnenfeld, A.E., K.A. Conrad, N.R. Roberts et al., MELNICK-NEEDLES syndrome on males: A lethal multiple congenital anomalies Syndrome. Am. J. Med. Genet. 27 (1987) 1592–173.
Exner, G.U., Serpentine fibula — polycystic syndrome. A variant of the MELNICK-NEEDLES Syndrome or a distinct entity ? Eur.J.Pediat. 147 (1988) 544–546.
Fryns, J.P., A. Schinzel and H. van den Berghe, Hyperlaxity in males with MELNICK-NEEDLES syndrome. Am. J. Med. Genet. 29 (1988) 607–611.
Bull, P. C. and D.W. Cox, WILSON disease and MENKES disease: new handles on heavy-metal transport. Trends in Genetics 10 (1994) 246–252.
Danks, D.M., The mild form of MENKES’ disease: Progress report on the original case. Am. J. Med. Genet. 30 (1988) 859–864.
Nadal, D. and K. Baerlocher, MENKES’ disease: Long-term treatment with copper and D-Penicillamine. Eur.J.Pediat. 147 (1988) 621–625.
Sander, C., H. Niederhoff and N. Horn, Life-span and MENKES’ kinky hair syndrome: report of a 13-year course of this disease. Clin.Genet. 33 (1988) 228–233.
Tonnesen, T., A.M. Gerdes, E. Damsgaard et al., First-trimester of MENKES’ disease: Intermediate copper values in chorionic villi from three affected male fetuses. Prenatal Diagn. 9 (1989) 159–165.
Tonnesen, T., W.J. Klejer and N. Horn, Incidence of MENKES disease. Hum.Genet. 86 (1991) 408–410.
Silverthorn, K.G., C.S. Houston and B.P. Duncan, Murk JANSEN’S metaphyseal chondrodysplasia with long-term followup. Pediat.Radiol. 17 (1987) 119–123.
Dharmavaran, R.M., M.A. Elberson, M. Peng, L.A. Kirson, T. E. Kelley and S.A. Jimenez, Identification of a mutation in type X collagen in a family with SCHMID metaphyseal chondrodysplasia. Hum.Molec.Genet. 3 (1994) 507–509.
Farag, T. I. and A.S. Teebi, The second family with SPAHR-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed. Clin.Genet. 38 (1990) 237–239.
Lachman, R.S., D.L. Rimoin and J. Spranger, Metaphyseal chondrodysplasia, SCHMIDT type. Clinical and radiographic delineation with review of the literature. Pediat.Radiol. 18 (1988) 93–102.
Currarino, G., Unusual bone dysplasia featuring severe platyspondyly and vertebral „coronal cleft in infancy, and changes of metaphyseal chondrodysplasia in childhood. Pediat.Radiol. 16 (1986) 433–436.
Khaldi, F., B. Bennaceur et M. Hamza, Une novelle forme de Chondrodysplasie metaphysaire. Arch.Fr.Pediat. 44 (1987) 115–117.
Opitz, J.M., J.W. Spranger, H.R. Stoss et al, Brief clinical report: Sedaghatian congenital lethal metaphyseal chondro-dysplasia — observation in a second Iranian family and histopathological studies. Am. J. Med. Genet. 26 (1987) 583–590.
Giordano, S.J., A. Kaftory and A.W. Steggles, A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphroditism. Hum.Genet. 3 (1994) 568–570.
Tanishima,K., K.Tanimoto, A.Tomoda, K.Mawa- tari, S.Matzukawa, S.Yonayama, H.Okhuwa and E.Takazakura, Hereditary methemoglobinemia due to cytochrome b(5) reductase deficiency in blood cells without associated neurological and mental disorder. Blood 66 (1985) 1288–1291
Carver, M. F. H. and A. Kutlar, International Hemoglobin Information Center Variant List. Hemoglobin 18 (1994) 77–161.
Fukao, T., S. Yamaguchi, M. Kano et al., Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase. J.Clin.Invest. 86 (1990) 2086–2092.
Fukao, T., S. Yamaguchi, T. Orü et al., Molecular basis of 3-ketothiolase deficiency: identifica-tion of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping. Biochem.Biophys. Acta Mol.Basis Dis. 1139 (1992) 184–188.
Sovik, O., Mitochondrial 2-methylacetoacetyl- CoA thiolase deficiency: An inborn error of isoleucine and ketone body metabolism. J.Inherit.Metab.Dis. 16 (1993) 46–54.
Wajner, M., M.T. Sanseverino, R. Giugliani, L. Sweetman, et al., Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetyl-coenzyme-A thiolase. Clin.Genet. 41 (1992) 202–205.
Greter,D., E.Holme, S.Lindstedt and M.Koivikko, Biotin-responsive β-methylcrotonylglycin-uria with biotinidase deficiency. J.Inherit. Metab.Dis. 5/Suppl. 2 (1985) 103–104.
Page,T. and W.L.Nyhan, Separation of the intermediates of leucine catabolism by high performance liquid chromatography. Biochem.Med. 34 (1985) 297–303.
Crane, A.M., L.S. Martin, D. Valle and F.D. Ledley, Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase. Hum.Genet. 89 (1992) 259–264.
Raff, M.L., A.M. Crane, R. Jansen et al., Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut° and mutPT-PT methylmalonic aciduria by interallelic complementation. J.Clin.Invest. 57 (1991) 203–207.
Ogasawara, M., Y.Matsubara, H.Mikami and K.Narisawa, Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. Hum.Molec.Genet. 3 (1994) 867–872.
De Klerk, J.B.C., M. Duran, L. Dorland et al, A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anae-mia, thrombocytopenia and leukocytosis. J.Inherit.Metab.Dis. 11/Suppl. 2 (1988) 233–236.
Gibson, K.M., G. Hoffmann, W.L. Nyhan et al., Crane, A.M., L.S. Martin, D. Valle and F.D. Ledley, Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase. Hum.Genet. 89 (1992) 259–264.
Raff, M.L., A.M. Crane, R. Jansen et al., Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut° and mutPT-PT methylmalonic aciduria by interal- lelic complementation. J.Clin.Invest. 57 (1991) 203–207.
Ogasawara, M., Y. Matsubara, H. Mikami and K. Narisawa, Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. Hum.Molec.Genet. 3 (1994) 867–872.
Joulet, A., M.-G. Bousser, V. Biousse et al., A gene for familial hemiplegic migraine maps to chromosome 19. Nat.Genet. 5 (1993) 40–45.
Miller, N.R., in Walsh and Hoyt’s clinical Neuroophthalmology, Vol.4. Baltimore 1991. Mochi, M., S. Sangiorgi, P. Cortelli et al., Testing models for genetic determination in migraine. Cephalalgia 13 (1993) 389–394.
Munte, T.F. and H. Muller-Vahl, Familial migraine coma: a case study. J.Neurol. 237 (1990) 59–61.
Ophoff, R.A., R. van Eijk, L.A.Sankuijl, G.M. Terwindt, C.P.M.Grubben, J.Haan, D.Lind- hout, M.D.Ferrati and R.R.Frants, Genetic heterogeneity of familial hemiplegic migraine. Genomic 22 (1994) 21–26.
Mazzeo,V., G.Gaiba and A.Rossi, Hereditary cases of congenital microcoria and gonio- dysgenesis. Ophthal.Paediat. Genet. 7 (1986) 121–125
Schinzel, A., and V. D’Apuzzo, Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp (4;22)(p 15.2;ql 1.2). Ophthalmie Paediatr. Genet. 11 (1990) 139–142.
Traboulsi, E.I., W. Lenz, M. Gonzales-Ramos et al., The LENZ microphthalmia syndrome. Am.J.Ophthal. 105 (1988) 40–45.
Wapenaar, M.C., M.T. Bassi, L. Schaefer, A. Grillo, G. B. Ferrero, A.C. Chinault, A. Ballabio and H.Y. Zoghbi, The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum.Molec.Genet. 2 (1993) 947–952.
Lindsay, E.A., A. Grillo, G.B. Ferrero, E.J. Roth, E. Magenis, M. Grompe, M. Hulten, C. Gould, A. Baldini, H.Y. Zoghbi and A. Ballabio, Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization. Am. J. Med. Genet. 49 (1994) 229–234.
Warburg, M., Classification of microphthalmos and coloboma. J.Med.Genet. 30 (1993) 664–669.
Cohen,B., I.K.Temple, J.C.Symons et al., Microtia and short stature: a new syndrome. J.Med.Genet. 28 (1991) 786–790.
Gorlin,R.J., Microtia, absent patella, short stature, micrognathia syndrome. J.Med.Genet. 29 (1992) 516–517.
Orstavik,K.H., S.Medbo and I.W.S.Mair, Right- sided microtia and conductive hearing loss with variable expressivity in three generations. Clin.Genet. 38 (1990) 117–120.
Schinzel, A., and V.D’Apuzzo, Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp (4;22)(p15.2;11.2). Ophthalmic Paediatr. Genet. 11 (1990) 139–142.
Traboulsi, E.I., W. Lenz, M.. Gonzales-Ramos et al., The LENZ microphthalmia syndrome. Am.J.Ophthal. 105 (1988) 40–45.
Wapenaar, M.C., M.T. Bassi, L. Schaefer, A. Grillo, G. B. Ferrero, A.C. Chinault, A. Ballabio and H.Y. Zoghbi, The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum.Molec.Genet. 2 (1993) 947–952.
Lindsay, E.A., A. Grillo, G.B. Ferrero, E.J. Roth, E. Magenis, M. Grompe, M. Hulten, C. Gould, A. Baldini, H.Y. Zoghbi and A. Ballabio, Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization. Am. J. Med. Genet. 49 (1994) 229–234.
Warburg, M., Classification of microphthalmos and coloboma. J.Med.Genet. 30 (1993) 664–669.
Jaffe, M., E. Tirosh and S. Oren, The dilemma in prenatal diagnosis of idiopathic microcephaly. Dev.Med.Child.Neurol. 29 (1987) 187–189.
Evans, D.G.R., Dominantly inherited microcephaly, hypotelorism and normal intelligence. Clin.Genet. 39 (1991) 178–180.
Hennekam, R.C.M., A. van Rhijn, EA.M.Hennekam, Dominantly inherited microcephaly, short stature and normal intelligence, Clin. Genet. 41 (1992) 248–252.
Sadler, L. S. und L.K. Robinson, Chorioretinal dysplasia-microcephaly-mental retardation syndrome: Report of an American family. Am. J. Med. Genet. 47 (1993) 65–68.
Silengo,M., M.Lerone, M.Martinelle, G.Martucciello, P. E.Caffarena, V.Jasonni and G.Romeo, Autosomal recessive microcephaly with early onset, seizures and spasticity. Clin. Genet. 42 (1992) 152–155.
Hammans, S.R., M.G. Sweeney, D.A.G. Wicks et al., A molecular genetic study of focal histo- chemical defects in mitochondrial encephalo- myopathies. Brain 115 (1992) 343–365.
Harding, A.E., I.J. Holt, M.G. Sweeney, M.Brockington and M.B.Davis, Prenatal diagnosis of mitochondrial DNA8993T G disease. Am.J. Hum.Genet. 50 (1992) 629–633.
Matthews, P.M., J.Hopkins, R.M. Brown, J.B.P. Stephenson, D. Hilton-Jones and G.K. Brown, Comparison of the relative levels of the 3243 (A-G) mtDNA mutation in heteroplasmic adults. J.Med.Genet. 31 (1994) 41–44.
Petruzzella, V., C.T. Moraes, M.C. Sano, E. Bonilla, S. DiMauro and E.A Schon, Extremely high levels of mutant mtDNAs coloealize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum. Molec.Genet. 3 (1994) 449–454.
Schon, E.A., M. Hirano and S. DiMauro, Mitochondrial encephalomyopathies: Clinical and molecular analysis. J.Bioenerg.Biomembr. 26 (1994) 291–299.
Schork, N.J. and S.W. Guo, Pedigree models for complex human traits involving the mitochondrial genome. Am.J.Hum. Genet. 53 (1993) 1320–1337.
EmeritJ., RArutyunyan, T.Sarkisian et al., Oxy-radical-mediated chromosome damage in patients with familial Mediterranean fever. Free Radic.Biol.Med. 15 (1993) 265–271
Pras,E., I.Aksentijevich, L.Grubenberg et al., Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. New Engl.J.Med. 326 (1992) 1509–1513.
Le Merrer,M., R.Brauner and P.Maroteaux, Dwarfism with gloomy face: A new syndrome with features of 3-M syndrome. J.Med.Genet. 39 (1991) 172–177.
Winter,R.M., M.Baraitser, D.B.Grant, M.A.Preece and C. M. Hall, The 3-M syndrome. J.Med. Genet. 31 (1984) 124–128.
Anneren, G., K.-H. Gustavson, S. Jozwiak, S. Kjartansson and B. Stromberg, Abnormalities of the cerebellum in oro-facio-digital syndrome II (MOHR syndrome). Clin.Genet. 38 (1990) 69–73.
Silengo, M.C., G.L. Bell, M. Biagioli and P. France schini, Oror-facio-digital syndrome II. Transitional type between the MOHR and the MAJEWSKI syndromes: report of two new cases. Clin.Genet. 31 (1987) 331–336.
Meineeke, P. and H. Hayek, Orofaciodigital syndrome type IV (MOHR-MAJEWSKI syndrome) with severe expression expanding the known spectrum of anomalies. J.Med.Genet. 27 (1990) 200–202.
Stephan, M.J., K.L. Brooks, D.C. Moore, E.J. Coll and C. Goho, Hypothalamic hamartoma in Oral-facial-digital syndrome type VI (VARADI syndrome. Am. J.Med.Genet. 51 (1994)
Renwick, J. H. and M.M.Izatt, Linkage data on monilethrix. Cytogenet.Cell Genet. 47 (1988) 513–521.
Schaap,T., Z.Even-Paz, M.E.Hodes, M.M.Cohen and S.Hacham-Zadeh, The genetic analysis of monilethrix in a large inbred kindred. Am.J. Med.Genet. 11 (1982) 469–474.
Abe, S., E. Yamaguchi, S. Makimura et al., Association of HLA-DR with sarcoidosis: Correla- tion with clinical course. Chest 92 (1987) 488–490.
Grufferman, S., J.W. Barton III and N.L. Eby, Increased sex condordance of sibling pairs with BEHCET’S disease, HODGKIN’S disease, multiple sclerosis and sarcoidosis. Am.J.Epi- demiol. 126 (1987) 365–369.
Kronauer,C.M., T.C. Medici and E.W. Russi, Familiäre Sakoidose: 4 aus 2 Famillien. Schweiz. Med. Wschr. 118 (1988) 1482–1486.
Schaap, T., Z. Even-Paz, M.E. Hodes, M.M. Cohen and S. Hacham-Zadeh, The genetic analysis of monilethrix in a large inbred kindred. Am.J. Med.Genet. 11 (1982) 469–474.
Abe, S., E. Yamaguchi, S. Makimura et al., Association of HLA-DR with sarcoidosis: Correla- tion with clinical course. Chest 92 (1987) 488–490.
Grufferman, S., J.W. Barton III and N.L. Eby, Increased sex condordance of sibling pairs with BEHCET’S disease, HODGKIN’S disease, multiple sclerosis and sarcoidosis. Am.J.Epidemiol. 126 (1987) 365–369.
Kronauer, C.M., T.C. Medici and E.W. Russi, Familiäre Sarkoidose: 4 Fälle aus 2 Familien.Schweiz.Med.Wschr. 118 (1988) 1482–1486.
Nowack, D. and K.M. Goebel, Genetic aspects of sarcoidosis. Class II histocompatibility antigens and a family study. Arch.Intern.Med 147 (1987) 481–483.
Pawlikowski, M. and J. Komorowski, Hyperostosis frontalis, galactorrhoe/hyperprolactinemia and MOrgagni-STewart-MOREL syndrome. Lancet 1983/1 474.
Ellison5P.H., J.A.Largent and A.J.Popp, Moya- moya disease associated with renal artery stenosis. Areh.NeuroL 38 (1981) 467. Meschino,W. S. and H.E.Hughes, Moyamoya disease: an autosomal recessive condition ? Am.J.Hum.Genet. 45 (1989) 54 (Abstr.A54).
Lamaire,V., Le syndrome de MÜCKLE et WELLS. Concours Méd. 98 (1976) 7246–7248.
Legent, F., A. Prost, C. Beauvillain et al., La surdité dans le syndrome de MUCKLE et WELLS. Ann.Oto-Laryng. 93 (1976) 355–365.
Thomas, P.K., Genetic factors in amyloidosis. J.Med.Genet. 12 (1975) 317–326.
Hall. N.R., V.A.Murday, P.Chapman et al., Genetie linkage in MUIR-TORRE syndrome to the same chromosomal region as cancer family syndrome. Eur.J.Cancer 30 (1994) 180–182.
Lynch, H.T., R.M. Fusaro, L. Roberts, G.J. Voorhees and J.F. Lynch, MUIR-TORRE syndrome in several members of a family with variant of the cancer family syndrome. Br.J.Derm. 113 (1985) 295–301.
Narita,H., T.Kanzaki, M.Yokota and S.Matsuba, MUIR-TORRE syndrome. J.Dermatol. 19 (1992) 105–108.
Hoogeveen, A.T., F.W. Verheijen, F.W. d’Azzo and H. Galjaard, Genetic heterogeneity in human neuraminidase deficiency. Nature 285 (1980) 500–502.
Prieur, D.J., A.J. Ahern-Rindell, R.D. Murnane, R.W. Wright and S.M. Parish, Inheritance of an ovine lysosomal storage disease associated with deficiencies of β-galaetosidase and α- neuraminidase. J.Hered. 81 (1990) 245–249.
Striseiuglio, P., W.S. Sly, W.E. Dodson et al, Combined deficiency of β-galactosidose and neuraminidase: Natural history of the disease in the first 18 years of an American patient with late infantile onset form. Am. J. Med. Genet. 37 (1990) 573–577.
Zhou, X.Y., N.J. Galjart, R. Willemsen, N. Gillemans, H. Galjart and A. d’Azzo, A mutation in a mild form of galactosialidosis impairs dime- rization of the protective protein and renders it instable. EMBO J. 10 (1991) 4041–4048.
Clements, P.R., J.A. Taylor and J.J. Hopwood, Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families. J.Inherit.Metab. Dis. 11 (1988) 30–44.
Roth, K., J.C. Chan, N.R. Ghatak, P. Mamuness, WW. Miller and J. O’Brien, Acid α-Neuraminidase deficiency: a nephropathic phenotype ? Clin.Genet. 34 (198?) 185-194.
Ben-Yoseph,Y., D.A. Mitchell, R.M. Yager, J.T. Wei, T. H. Chen and L.Y. Shih, Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward α- methylmanoside are due to non-allelic mutations. Am.J.Hum.Genet. 50 (1992) 137–144.
Ben-Yoseph, Y., B.A. Pack, D.A. Mitchell et al., Characterization of the mutant N-acetylglucosaminylphosphotransferase in I-cell disease and Pseudo-HURLER polydystrophy: complementation analysis and kinetic studies. Enzyme 35 (1986) 106–116.
Ranieri, E., B. Paton and A. Poulos, Preliminary evidence for a processing error in the biosynthesis of GAucher activator in mucolipidosis disease types II and III. Biochem.J. 233 (1986) 763–772.
Chitayat, D., C.M. Meunier, K.A. Hodgkinson, K. Silver, M. Flanders, I.J. Anderson, I.M. Little, A.H. Whiteman and S. Carpenter, Mucolipidosis type IV: Clinical manifestations and natural history. Am. J. Med. Genet. 41 (1991) 313–318.
Zeigler, M., R. Bargal, V. Suri et al., Mucolipidosis type IV: Accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis. Prenatal Diagn. 12 (1992) 1037–1042.
Bunge, S., W.J. Kleijer, C. Steglich, M. Beck, C. Zuther, C. P. Morris, E. Schwinger, J.J. Hopwood, H.S. Scott and A. Gal, Mukopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common αL-iduronidase mutations (W402X and Q70X) among European patients. Hum. Molec.Genet. 3 (1994) 861–866.
Colavita, N., C. Orazi, A. Fileni et al., A further contribution to the knowledge of mukopolysaccharidosis I H/S compound. Presentation of two cases and review of the literature. Aus0tr.Radiol. 30 (1986) 142–149.
Hugh-Jones, K., Psychomotor development of children with mucopolysaccharidosis type 1-H following bone marrow transplantation. Birth. Def., Orig.Art.Ser. 22 (1986) 25–29.
Scott, H.S., P.V. Nelson, A. Cooper, J.E. Wraith J.J. Hopwood and C.P. Morris, Mucopolysaccharidosis type I (HURLER syndrome): linkage disequilibrium indicates the presence of a major allele. Hum.Genet. 88 (1992) 701–702.
Bunge, S., C. Steglich, M. Beck, W. Rosenkranz, E. Schwinger, J.J. Hopwood and A. Gal, Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (HUNTER syndrome). Hum.Molec.Genet. 1 (1992) 335–339.
Hopwood, J.J., S. Bunge, C.P. Morris, P.-J. Wilson, C. Steglich, M. Beck, E. Schwinger and A. Gal., Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene. Hum.Mut. 2 (1993) 435–442.
Kaplan, P. and L.S. Wolfe, SANFILIPPO syndrome type D. J.Pediat. 110 (1987) 267–271.
DiNatale, P., N. Pannone, G. D’Argenio, R. Gatti, R. Ricci and C. Lombardo, Firsttrimester prenatal diagnosis of SANFILLIPO C disease. Prenatal Diagn. 7 (1987) 603–605.
Toone, J.R. and D.A. Applegarth, Carrier detection in SANFILIPPO A syndrome. Clin.Genet. 33 (1988) 401–403.
Stone, J., A. Brimble and C.A. Pennock, Carrier detection for SANFILIPPO A syndrome. Clin. Genet. 33 (1990) 401–403.
Beck, M., J. Glössl, A. Grubisic and J. Spranger, Heterogeneity of MORQUIO disease. Clin.Genet. 29 (1986) 325–331.
Nelson, J., D. Broadhead and J. Mossman, Clinical findings in 12 patients with MPS IV A (MORQUIO’S disease). Further evidence for heterogeneity. Part I: clinical and biochemical findings. Clin.Genet. 33 (1988) 111–120
Isbrandt, D., G. Arlt, D.A. Brooks, J.J. Hopwood, K. von Figura and C. Peters, Mucopolysaccharidosis VI (MAROTEAUX-LAMY syndrome): Six unique Arylsulfatase B gene alleles causing variable disease phenotypes. Am.J.Hum.Genet. 54 (1994) 454–463.
Krivit, W., M.E. Pierpont, K. Ayaz, M. Tsai, N.K.C. Ramsay, J.H. Kersey, S. Weisdorf, R. Sibley, D. Snover, M.M. McGovern, M.F. Schwartz and R.J. Disnick, Bone-marrow transplantation in the MAROTEAUX-LAMY Syndrome (mucopolysaccharidosis type VI): biochemical and clinical status 24 month after transplantation. New Engl.J.Med. 311 (1984) 1606–1611.
Sanguinetti, N., J. Marsh, M. Jackson et al., The arylsufatases of chorionic villi: Potential problems in the first-trimester diagnosis of metachromatic leucodystrophy and MAROTEAUX-LAMY disease. ClinGenet 30 (1986) 302–308.
Kyle,J.W., E.H.Birkenmeier, B.Gwynn, C.Vogler, P.C.Hoppe, J.W.Hoffmann and W.S.Sly, Correction of murine mucopolysaccharidosis VII by a human β-glucuronidase transgene. Proc. Nat.Acad.Sci. 87 (1990) 3914–3918.
Tomatsu,S., S.Fukuda, K.Sukegawa et al., Muko- polysaccharidosis type VII: Characterization of mutations and molecular heterogeneity. Am.J.Hum.Genet. 48 (1991) 89–96.
Blackman,M.S., Growth failure with pericardial constriction. The syndrome of MULIBREY nanism. Am.J.Dis.Child. 130 (1976) 1146 1148
Edström,L., W.G.P.Mair, R.Wroblewski et al., Type distribution of muscle fibres and their ultrastructure related to intracellular elemental composition as revealed by energy dispersive X-ray microanalysis. A study of multicore myopathy. J.Neurol.Sci. 75(1986) 31–48.
Ohashi,H., M.Tsukahara, I.Mutano et al., Premature aging and immunodeficiency: MULVIHILL-SMITH Syndrome ? Am. J. Med. Genet. 45 (1993) 597–600.
Colavita,N., C.Orazi, C.Logroscino et al., Does MURCS association represent an actual non- random complex of malformation ? Diagn. Imagine Clin.Med. 55 (1986) 172–176.
Greene,R.A., M.J.Bloch, D.S.Shuff and R.V.Ioszo, MURCS association with additional congenital anomalies. Hum.Path. 17 (1986) 88–91.
Ben Othmane,K., F.Hentati, F.Lennon, C.Ben Hamida, S. Blei, A.D.Roses and M.A.Pericak-Vance, Linkage of a locus (CMT4A) for autosomal recessive CHARCOT-MARIE-TOOTH disease to chromosome 8q. Hum.Molec.Genet. 2 (1993) 1625–1628.
Cochrane,S., J.Bergoffen, N.D.Fairweather, E.Müller et al., X-linked CHARCOT-MARIE-TOOTH disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms. J.Med.Genet. 31 (1994) 193–196.
Hoogendijk,J.E., G.W.Hensels, I.Zorn, L.Valentijn, E. A. M.Janssen, M. de Visser, D.EBarker, B.W.Ongerboer de visser, F.Baas, P.A.Bolhuis, The duplication in CHARCOT-MARIE-TOOTH disease type la spans at least 12100 kb on chromosome 17pll.2. Hum.Genet. 88 (1991) 215–218.
Malcolm,S., CHARCOT-MARIE-TOOTH disease type I. J.Med. Genet. 29 (1992) 3–4.
Suter,U. and P.I.Patel, Genetic basis of inherited peripheral neuropathies. Hum.Mutat. 3 (1994) 95–102.
Jansen, P.H.P., E.M.G.Joosten, H.H.J.Jaspar and H.M.Vingerhoets, A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy. Ann.Neurol. 20 (1986) 238–240.
Kausch,K., C.R.Muller, T.Grimm, K.Ricker, M.Rietschel, S.Rudnik-Schoneborn and K.Zerres, No evidence for linkage of autosomal dominant proximal spinal muscular atro-phies to chromosome 5q markers. Hum.Genet. 86 (1991) 317–318.
Pearn, J. and P.Hudgsoü, Distal spinal muscular atrophy. A clinical and genetic study of eight kindreds. J.Neurol.Sci. 43 8 1979 ) 183–191.
Zerres,K., Klassifikation und Genetik spinaler Muskelatrophien. Thieme-Verl. Stuttgart 1989.
Boltshauser,E., W.Land, T.Spillmann and E.Hof, Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy ? J.Med.Genet. 26 (1989) 105–108.
Young,I.D., and P.S.Harper, Hereditary distal spinal muscular atrophy with vocal cord paralysis. J.Neurol.Neurosurg. Psychiat. 43 (1980) 413–418.
Brzustowicz,L.M., C.Merette, P.W.Kleyn et al., Assessment of nonallelic genetic heterogeneity of chronic (Type I and II) spinal muscular atrophy. Hum.Hered. 43 (1993) 380–387.
Robb,S.A., M.A.McShane, J.Wilson and J.Payan, Acute onset spinal muscular atrophy in siblings. Neuropediatrics 22 (1991) 45–46.
Zerres,K., Klassifikation und Genetik spinaler Muskelatrophien. Thieme-Verl. Stuttgart 1989.
Brzustowicz,L.M., C.Merette, P.W.Kleyn et al., Assessment of nonallelic genetic heterogeneity of chronic (Type I and II) spinal muscular atrophy. Hum.Hered. 43 (1993) 380–387.
Robb,S.A., M.A.McShane, J.Wilson and J.Payan, Acute onset spinal muscular atrophy in siblings. Neuropediatrics 22 (1991) 45–46.
Zerres,K., Klassifikation und Genetik spinaler Muskelatrophien. Thieme-Verl. Stuttgart 1989.
Brzustowicz,L.M., T.Lehner, L.H.Castilla, G.K.Penchaszadeh, K.C.Wilhelmsen, R.Daniels, K.E.Davies, M.Leppert, F. Ziter, D.Wood, V.Dubowitz, K.Zerres, I.Hausmanowa-Petrusewicz, J.Ott, T.Munsat and T.C.Gillam, Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5ql 1.2-13.3. Nature 344 (1990) 540–541.
Rudnik-Schöneborn, S., B.Wirth and K.Zerres, Evidence of autosomal dominant mutations in childhood-onset proximal muscular atrophy. Am.J.Hum.Genet. 55 (1994) 112–119.
Zerres,K, and T.Grimm, Genetic counselling in families with spinal muscular atrophy type KUGELBERG-WELANDER. Hum. Genet. 65 (1983) 74–75.
Ronen,G.M., N.Lowry, J.H.Wedge et al., Hereditary motor sensory neuropathia type I presenting as scapuloperoneal atrophy (DAVIDENKOW syndrome). Electrophysiological and pathological studies. Can.J.Neurol.Sci. 13 (1986) 264–266.
Kaeser,H.E., Die familiäre scapuloperonaeale Muskelatrophie. Dtsch.Z.Nervenheilk. 186 (1964) 379–394.
Rudnik-Schöneborn, S., B.Wirth and K.Zerres, Evidence of autosomal dominant mutations in childhood-onset proximal muscular atrophy. Am.J.Hum.Genet. 55 (1994) 112–119.
Zerres,K., Klassifikation und Genetik spinaler Muskelatrophien. Thieme-Verl. Stuttgart 1989.
Doyu,M., G.Sobue, E.Mukai et al., Severity of X-linked recessive bulbospinal neuropathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann.Neurol. 32 (1992) 707–710.
Ertekin, C. and H.Sirin, X-linked bulbospinal muscular atrophy (KENNEDY’S syndrome): A report of three cases. Acta Neurol.Scand. 57 (1993) 56–61.
Fischbeck,K.H., V.Ioanasescu, A.W.Ritter, R.Io- anasescu, K.Davies, S.Bali, RBosch, T.Burns, I.Hausmonova-Petrusewicz, J.Borkowska, S.P.Ringel, L.Z.Stern, Localization of the gene for X-linked spinal muscular atrophy. Neurology 36 (1986) 1595–1598.
Passos-Bueno, M.R., M.Vainzof, S.K.Marie and M.Zatz, Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy. Hum.Molec.Genet. 3 (1994) 919–923.
Bashir,R., T.Strachan, S.Keers, A.Stephenson, I.Mahjneh, G.Marconi, L.Nashef and K.M.D.Bushby, A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum.Molec.Genet. 3 (1994) 455–457.
Othmane,K.B., M.B.Hamida, M.A.Pericak-Vance, Ch.Ben Hamida, S.Blei, S.C.Carter et al., Linkage of Tunisian autosomal recessive Du- CHENNE-like muscular dystrophy to the pericentric region of chromosome 13q. Nature Genet. 2 (1992) 315–317.
Rudenskaya,G.E., E.K.Ginter, A.N.Petrin and N.A.DJomina, EMERY-DREIFUSS syndrome: Genetic and clinical varieties. Am. J. Med. Genet. 50 (1994) 228–233.
El Kerch, F., A.Sefiani, K.Azibi, N.Boutaleb, M.Yahyaoui, A.Bentahila et al., Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in North Africa. J.Med.Genet. 31 (1994) 342–343.
Matsumura,L., I.Nonaka and K.P.Capbell, Abnormal expression of dystrophin-associated proteins in FuKiJYAMA-type congenital muscular dystrophy. Lancet 1993/1 521-522.
Terasawa,K., Muscle regeneration and satellite cells in FUKUYAMA type congenital muscular dystrophy. Muscle Nerv. 9 (1986) 465–475.
Bailey,R.O., D.C.Marzulo and M.B.Hans, Infantile facioscapulohumeral muscular dystrophy: New observation. Acta Neurol.Scand. 74 (1986) 51–58.
Hoffmann,W., und F.H.Herrmann, Neuromuskuläre Erkrankungen — Diagnostik, Klinik, Therapie und Genetik. VEB G. Thieme-Verl. Leipzig 1985.
Yoshioka,M., S.Kuroki, K.Ohkura et al., Congenital myopathy with type II muscle fiber hypoplasia. Neurology 37 (1987) 860–863.
Brueton,L., S.Huson, E.Thompson, A.Vincent, S.Hawke, J. Price, D.Shirley, P.Barnes and J.Newsom-Davis, Myasthenia gravis: an im- portant cause of the PENA-SHOKEIR pheno- type. Abstr.J.Med.Genet. 31 (1994) 167.
Kerzin-Storrar,L., R.A.Metcalfe, P.A.Dyer et al., Genetic factors in myasthenia gravis: A family study. Neurology 38 (1988) 38–42.
Pascuzzi,R.M., A.Sermas, L.M.Philipps and T.R.Johns, Familial autoimmune myastheniagravis and thymoma: occurrence in two brothers. Neurology 36 (1986) 423–427.
Berger,R. and A.Bernheim, Cytogenetic studies of SEZARY cells. Cancer Genet.Cytogenet. 27 (1987) 79–87.
Garcia-Cruzid., L.E.Figuera, A.Feria-Velazco et al., The MYHRE Syndrome: report of two ca- ses. Clin.Genet. 44 (1993) 203–207.
Pueschel,S.M., J.H.Friedman and T.Shetty, My-oclonic dystonia. Child’s Nerv.Syst. 8 (1992) 61–66.
Baldy-Moulinier,M. et A.Malafosse, Génétique moléculaire des epilepsies. Boll.Lega Ital.Epi- lessia 79-78 (1992) 17–20.
Genton,P., C.Dravet, D.Yiallat et al., La maladie D’unverricht-Lundborg (type myoclonus Méditerranéen): a modele de maladie a transmission autosomique récessive. Boll.Lega Ital.Epilessia 79 /80 (1992) 67–68.
Lehesjoki,A.-E., M.Koskiniemi, R.Norio, S.Tirrito, P.Sistonen, E.Lander and A. de la Chapelle, Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum.Mol.Genet. 2 (1993) 1229–1234.
Vries,D. D. de, I. J. de Wijs, G.Wolff, U.-P.Ketelsen, H.-H. Ropers and B.A. van Oost, X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder. Hum.Genet. 91 (1993) 51–54.
Diebold,K., Die erblichen myoklonisch-epileptisch-dementiellen Kernsyndrome. Springer- Verl. Berlin, Heidelberg, New York 1973.
Harzer,K., M.Crantz, A.C.Sewell et al., Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria. Hum.Genet. 74 (1986) 209–214.
Bachmann,H., A.Wagner, L. von Rohden, T.Krause, V.Steinbicker und H.-J.Kmietzyk, Familienuntersuchungen bei distalen Spät- myopathien — Langzeitbeobachtungen und
Frühdiagnose. Zschr. Klin.Med. 43 (1988) 481–484.
Horowitz, S.H. and H.Schalbruch, Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 17 (1994) 151–160.
Petty,R.K.H., A.E.Harding and J.A.Morgan-Hughes, The clinical features of mitochondrial myopathy. Brain 109 (1986) 915–938.
Wijburg,F.A., P.G.Barth, W.Ruitenbeek, R.J.A.Wanders, G.D. Voss, S.L.B.Ploos van Amstel and R.B.H.Schütgens, Familial NADH:Q(1) oxidoreductase (complex I) deficiency: variable expression and possible treatment. J.Inherit.Metab.Dis. 12 (Suppl. 2) (1989) 349–351.
Alstead,E.M., M.N.Murphy, A.M.Flanagan, A.E.Bishop and H.J.F.Hodgson, Familial autonomic visceral myopathy with degeneration of muscularis mucosae. J.Clin.Path. 41 (1988) 424–429.
Pauzner,R., I.Blatt, M.Mouallem, E.Ben-David, Z.Farfel and M.Sadeh, Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. Muscle Nerve 14 (1991) 947–952.
Ferrer,X., C.Vital, M.Coquet et al., Myopathie centronueleaire autosomique dominante. Rev.Neurol. 148 (1992) 622–630.
Gerdes,A.M., M.B.Petersen, H.D.Schroder, K.Wulff and K. Brondum-Nielsen, Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions. Clin.Genet. 45 (1994) 11–16.
Liechti-Gallati,S., G.Wolff, U.-P.Ketelsen and S.Braga, Prenatal diagnosis of X-linked cen- tronuclear myopathy by linkage analysis. J.Pe- diatr.Orthop. 13 (1993) 210–213.
Bech-Hansen,N.T., B.J.Moore and W.G.Pearce, Mapping of locus for X-linked congenital sta- tionary night blindness (CSNB1) proximal to DXS7. Genomics 12 (1992) 409- 411. Kolata,G., What causes nearsightedness ? Science 229 (1985) 1249–1250.
von Norden,G.K. and R.A.Lewis, Ocular axial length in unilateral congenital cataracts and blepharoptosis. Invest. Ophthal.Visual Sei. 28 (1987) 750–752.
Teikari,J.M., J.O’Donnell, J.Kaprio and M.Koskenvuo, Impact of heredity in myopia. Hum.Hered. 4i (1991) 151–156
Abdalla,J.A., W.L.Casley, H.K.Cousin, A.J.Hudson, E. G. Murphy, F.C.Cornelis, L.Hashimoto and G.C.Ebers, Linkage of THOMSEN disease of the T-cell receptors ß (TCRB) locus on chromosome 7q35. Am.J.Hum.Genet. 51 (1992) 579–584.
Lorenz, C., C.Meyer-Kleine, K.Steinmeyer, M.C.Koch and Heine, R., A.L.George Jr., U.Pika, F.Deymeer, R.Rüdel and F.Lehmann-Horn, Proof of a non-functional muscle chloride channel in recessive myotonia congenita (BECKER) by deletion of a 4 base pair deletion. Hum.Molec.Genet. 3 (1994) 1123–1128.
T. J.Jentsch, Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to BECKER-type myotonia. Hum.Molec.Genet. 3 1994 ) 941–946.
Ptacek,L.J., F.A.Ziter, J.W.Robert and M.F.Leppert, Evidence of genetic heterogeneity among the nondystrophic myotonias. Neurology 42 (1992) 1046–1048.
Steinmeyer,K., C.Ortland and T.J.Jentsch, Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel. Nature 354 (1991) 301–305.
Streib,E.W., Successful treatment with tocainide of recessive generalized congenital myotonia. Ann.Neurol. 19 (1986) 501–504.
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Witkowski, R., Prokop, O., Ullrich, E. (1995). M. In: Lexikon der Syndrome und Fehlbildungen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-97628-5_17
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