Abstract
Most genetically determined neuromuscular diseases have an assoicated cardiomyopathy. In single gene disorders the primary step in their pathogeneses is the mutant gene. It follows that the primary cause of such cardiomyopathies generally is this very same mutant gene. Thus, the identification of genes causing neuromuscular diseases provides us with a rapidly growing list of gene products that when altered can cause cardiomyopathies.
Keywords
- Muscular Dystrophy
- Duchenne Muscular Dystrophy
- Duchenne Muscular Dystrophy
- Myotonic Dystrophy
- Congenital Muscular Dystrophy
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References
Kunkel LM. 1986. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322:73–77.
Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM. 1986. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323:646–650.
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. 1987. Complete cloning of the Duchenne muscular dystrophy (DMD) cDMA and preliminary organization of the DMD gene in normal and affected individuals. Cell 50:509–517.
Hoffman EP, Brown RH Jr, Kunkel LM. 1987. Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 51:919–928.
Burghes AH, Logan C, Hu X, Belfall B, Worton RG, Ray PN. 1987. A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature 328:434–437.
Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM. 1985. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316:842–845.
Ahn AH, Kunkel LM. 1993. The structural and functional diversity of dystrophin. Nature Genet 3:283–291.
Ervasti JM, Campbell KP. 1991. Membrane organization of the dystrophin-glycoprotein complex. Cell 66:1121–1131.
Matsumura K, Ohlendieck K, lonasescu VV, Tomé FM, Nonaka I, Burghes AH, Mora M, Kaplan JC, Fardeau M, Campbell KP. 1993. The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies. Neuromuscul Disord 3:533–535.
Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike DJ, Harris JB, Waterston R, Brooke M, Specht L, Kupsky W, Chamberlain J, Caskey CT, Shapiro F, Kunkel LM. 1988. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne’s or Becker’s muscular dystrophy. N Engl J Med 318:1363–1368.
Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Muller CR, Lindlof M, Kaariainen H, de la Chapelle A, Kiuru A, Savontaus M-L, Gilgenkrantz H, Recan D, Chelly J, Kaplan JC, Covone AE, Archidiacono N, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wrogemann K, Blonden LAJ, van Paassen HMB, van Ommen GJB, Kunkel LM. 1989. The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion. Am J Hum Genet 45:498–506.
Ohlendieck K, Matsumura K, lonasescu VV, Towbin JA, Bosch EP, Weinstein SL, Semett SW, Campbell KP. 1993. Duchenne muscular dystrophy: Deficiency of dystrophin-associated proteins in the sarcolemma. Neurology 43:795–800.
Roberts RG, Coffey AJ, Bobrow M, Bentley DR. 1993. Exon structure of the human dystrophin gene. Genomics 16:536–538.
Bies RD, Friedman D, Roberts R, Perryman MB, Caskey CT. 1992. Expression and localization of dystrophin in human cardiac Purkinje fibers. Circulation 86:147–153.
Moriuchi T, Kagawa N, Mukoyama M, Hizawa K. 1993. Autopsy analyses of the muscular dystrophies. Tokushima J Exp Med 40:83–93.
Perloff JK, DeLeon AC, O’Doherty D. 1966. The cardiomyopathy of progressive muscular dystrophy. Circulation 33:625–648.
Heymsfield SB, McNish T, Perkins JV, Felner JM. 1978. Sequence of cardiac changes in Duchenne muscular dystrophy. Am Heart J 95:283–294.
Marian AJ, Roberts R. 1994. Molecular basis of hypertrophic and dilated cardiomyopathy. Tex Heart Inst J 21:6–15.
Bulfield G, Siller WG, Wight PA, Moore KJ. 1984. X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc Natl Acad Sci USA 81:1189–1192.
Sicinski P, Geng Y, Ryder-Cook AS, Barnard EA, Darlison MG, Barnard PJ. 1989. The molecular basis of muscular dystrophy in the mdx mouse. Scioence 244:1578–1580.
Bridges LR. 1986. The association of cardiac muscle necrosis and inflammation with the degenerative and persistent myopathy of MDX mice. J Neurol Sci 72:147–157.
Cos GA, Phelps SF, Chapman VM, Chamberlain JS. 1993. New mdx muatation disrupts expression of muscle and nonmuscle isoforms of dystrophin. Nature Genet 4:87–93.
Cooper BJ, Winand NJ, Stedman H, Valentine BA, Hoffman EP, Kunkel LM, Scott MO, Fischbeck KH, Kornegay JN, Avery RJ, Williams JR, Schmickel RD, Sylvester JE. 1988. The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature 334:154–156.
Valentine BA, Cummings JF, Cooper BJ. 1989. Development of Duchenne-type cardiomyopathy. Morphologic studies in canine model. Am J Pathol 135:671–678.
Devaux JY, Cabane L, Esler M, Flaouters H, Duboc D. 1993. Non-invasive evaluation of the cardiac function in Golden Retriever dogs by radionuclide angiography. Neuromuscul Disord 3:429–432.
Moise NS, Valentine BA, Brown CA, Erb HN, Beck KA, Cooper BJ, Gilmour RF. 1991. Duchenne’s cardiomyopathy in a canine model: Electrocardiographic and echocardiographic studies. J Am Coll Cardiol 17:812–820.
Sharp NJ, Kornegay JN, Van-Camp SD, Herbstreith MH, Secore SL, Kettle S, Hung WY, Constantinou CD, Dykstra MJ, Roses AD, et al. 1992. An error in dystrophin mRNA processing in Golden Retriever muscular dystrophy, an animal homolgue of Duchenne muscular dystrophy. Genomics 13:115–121.
Fardeau M. 1993. Cellular therapy and gene therapy: Perspectives in neuromuscular pathology [in French]. Pathol Biol (Paris) 41:681–685.
Michels VV, Pastores GM, Moll PP, Driscoll DJ, Miller FA, Burnett JC, Rodeheffer RJ, Tajik JA, Beggs AH, Kunkel LM, et al. 1993. Dystrophin analysis in idiopathic dilated cardiomyopathy. J Med Genet 30:955–957.
Beggs AH, Koenig M, Boyce FM, Kunkel LM. 1990. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86:45–48.
Towbin J A, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, McCabe ER, Swift M. 1993. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 87: 1854–1865.
Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, Marrosu MG, Cianchetti C, Realdi G, Cao A, et al. 1993. Brief report: Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy [see comments). N Engl J Med 329:921–925.
Bies RD. 1994. X-linked dilated cardiomyopathy [letter]. N Engl J Med 330:368–369.
Towbin JA, Ortiz-Lopez R. 1994. X-linked dilated cardiomyopathy [letter]. N Engl J Med 330:369–370.
Muntoni F. 1994. Letter to the editor. N Engl J Med 330:370.
Michels VV. 1993. Progress in defining the causes of idiopathic dilated cardiomyopathy [editorial; comment]. N Engl J Med 329:960–961.
Ben Hamida M, Fardeau M, Attia M. 1983. Severe childhood muscular dystrophy affecting both sexes frequent in Tunisia. Muscle Nerve 6:469–480.
McKusick VA. 1994. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 11th ed. Baltiomore, MD: Johns Hopkins University Press.
Cuticchia AJ, Fasman KH, Kingsbury DT, Robbins RJ, Pearson PL. 1993. The GDB human genome data base anno 1993. Nucleic Acids Res 21:3003–3006.
Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O, Campbell KP. 1993. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J Biol Chem 268:23739–23742.
Azibi K, Bachner L, Beckmann JS, Matsumura K, Hamouda E, Chaouch M, Chaouch A, Ait-Ouarab R, Vignal A, Weissenbach J, Vinet M-C, Leturcq F, Collin H, Tome FMS, Reghis A, Fardeau M, Campbell KP, Kaplan J-C. 1993. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50kDa dystrophin-associated glycoprotein maps to chromosome 13ql2. Hum Mol Genet 2:1423–1428.
Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FM, Romero NB, Fardeau M, Beckmann JS, Kaplan J-C, Campbell KP. 1994. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 78:625–633.
Passos-Bueno MR, Oliveira JR, Bakker E, Anderson RD, Marie SK, Vainzof M, Roberds S, Campbel KP, Zatz M. 1993. Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis. Hum Mol Genet 2:1945–1947.
Ben-Othmane K, Ben-Hamida M, Pericak-Vance MA, Ben-Hamida C, Blel S, Carter SC, Bowcock AM, Petruhkin K, Gilliam TC, Roses AD, Hentati F, Vance JM. 1992. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature Genet 2:315–317.
Bajusz E. 1969. Hereditary cardiomyopathy: A new disease model. Am Heart J 77:686–696.
Homburger F, Baker JR, Nixon CW, Whitney R. 1962. Primary, generalized polymyopathy and cardiac necrosis in an inbred line of Syrian hamsters. Med Exp 6:339–345.
Homburger F, Baker JR, Nixon CW, Wilgram G. 1962. New hereditary disease of Syrian hamsters: Primary, generalized polymyopathy and cardiac necrosis. Arch Intern Med 110: 660–662.
Roberds SL, Ervasti JM, Anderson RD, Ohlendieck K, Kahl SD, Zoloto D, Campbell KP. 1993. Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster. J Biol Chem 268:11496–11499.
Iwata Y, Nakamura H, Mizuno Y, Yoshida M, Ozawa E, Shigekawa M. 1993. Defective association of dystrophin with sarcolemmal glycoproteins in the cardiomyopathic hamster heart. FEBS Lett 329:227–231.
McKusick VA. 1991. Mendelian Inheritance in Man, 9th ed. Baltimore, MD: The Johns Hopkins University Press.
Miura K, Shirasawa H. 1987. Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography. Acta Pathol Jpn 37:1823–1835.
Matsumura K, Nonaka I, Campbell KP. 1993. Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy [comments]. Lancet 341:521–522.
Beggs AH, Neumann PE, Arahata K, Arikawa E, Nonaka I, Anderson MS, Kunkel LM. 1992. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc Natl Acad Sci USA 89:623–627.
Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Suzuki M, Tomita I, Origuchi Y, Ohno K, Misugi N, Sasaki Y, Takada K, Kawai M, Otani K, Marakami T, Saito K, Fukuyama Y, Shimizu T, Kanazawa I, Nakamura Y. 1993. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33. Nature Genet 5:283–286.
Vuolteenaho R, Nissinen M, Sainio K, Byers M, Eddy R, Hirvonen H, Shows TB, Sariola H, Engvall E, Tryggvason K. 1994. Human laminin M chain (merosin): Complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J Cell Biol 124:381–394.
Hillaire D, Leclerc A, Fauré S, Topaloglu H, Chiannilkulchai N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, Routon M-C, Mayer M, Pellissier JF, Estournet B, Barois A, Hentati F, Feingold N, Beckmann J, Dubovitz V, Tomé FMS, Fardeau M. 1994. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 3:1657–1661.
Sunada Y, Bernier SM, Kozak CA, Yamada Y, Campbell KP. 1994. Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. J Biol Chem 269:13729–13732.
Xu H, Christmas P, Wu XR, Wewer UM, Engvall E. 1994. Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. Proc Natl Acad Sci USA 91:5572–5576.
Moser H. 1984. Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention. Hum Genet 66:17–40.
Schanne FA, Kane AB, Young EE, Farber JL. 1979. Calcium dependence of toxic cell death: A final common pathway. Science 206:700–702.
Orrenius S, McCabe MJJ, Nicotera P. 1992. Ca2+ -dependent mechanisms of cytotoxicity and programmed cell death. Toxicol Lett 64–65(Spec No):357–364.
McConkey DJ, Nicotera P, Hartzell P, Bellomo G, Wyllie AH, Orrenius S. 1989. Glucocorticoids activate a suicide process in thymocytes through an elevation of cytosolic Ca2+ concentration. Arch Biochem Biophys 269:365–370.
Bertorini TE, Bhattacharya SK, Palmieri GM, Chesney CM, Pifer D, Baker B. 1982. Muscle calcium and magnesium content in Duchenne muscular dystrophy. Neurology 32:1088–1092.
Valentine BA, Cooper BJ, Cummings JF, de Lahunta A. 1990. Canine X-linked muscular dystrophy: Morphologic lesions. J Neurol Sci 97:1–23.
Valentine BA, Cooper BJ, Gallagher EA. 1989. Intracellular calcium in canine muscle biopsies. J Comp Pathol 100:223–230.
Glesby MJ, Rosenmann E, Nylen EG, Wrogemann K. 1988. Serum CK, calcium, magnesium, and oxidative phosphorylation in mdx mouse muscular dystrophy. Muscle Nerve 11:852–856.
Fong P, Turner PR, Denetclaw WF, Steinhardt RA. 1990. Increased activity of calcium leak channels in myotubes of Duchenne human and mdx mouse origin. Science 250:673–676.
Wrogemann K, Jacobson BE, Blanchaer MC. 1973. On the mechanism of a calcium-associated defect of oxidative phosphorylation in progressive muscular dystrophy. Arch Biochem Biophys 159:267–278.
Wrogemann K, Nylen EG. 1978. Mitochondrial calcium overloading in cardiomyopathic hamsters. J Mol Cell Cardiol 10:185–195.
Wrogemann K, Hayward WAK, Blanchaer MC. 1979. Biochemical aspects of muscle necrosis in hamster dystrophy. Ann NY Acad Sci 317:30–45.
Nylen EG, Wrogemann K. 1983. Mitochondrial calcium content and oxidative phosphorylation in heart and skeletal muscle of dvstrophic mice. Exp Neurol 80:69–80.
Brunner HG, Hamel BC, Rieu P, Howelcr CJ, Peters FT. 1992. Intestinal pseudoobstruction in myotonic dystrophy. J Med Genet 29:791–793.
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Curch D, Aburatani H, Hunter K, Stanon VP, Thirion J-P, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonnen V, Johnson K, Harper PS, Shaw DS, Housman DE. 1992. Molecular basis of myotonic dystrophy: Expansion of a trinucletide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799–808.
Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, Williamson R, Johnson K. 1992. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355:547–548.
Aslanidis C, Jansen G, Amemiya C, Shutler G, Mahadevan M, Tsilfidis C, Chen C, Alleman J, Wormskamp NGM, Vooijs M, Buxton J, Johnson K, Smeets HJM, Lennon G, Carrano AV, Komeluk RG, Wieringa B, de Jong PJ. 1992. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355:548–551.
Wrogemann K, Biancalana V, Devys D, Imbert G, Trottier Y, Mandel JL. Microsatellites and disease: A new paradigm. In: Pena SDJ, Chakraborty R, Epplen JT, Jeffreys AJ, eds. DNA Fingerprinting: State of the Science. Basel: Birkhauser Verlag, 1993:141–152.
van-der-Ven PF, Jansen G, van-Kuppevelt TH, Perryman MB, Lupa M, Dunne PW, ter-Laak HJ, Jap PH, Veerkamp JH, Epstein HF, Weiringa B. 1993. Myotonic dystrophy kinase is a component of neuromuscular junctions. Hum Mol Genet 2:1889–1894.
Emery AE. 1989. Emery-Dreifuss muscular dystrophy and other related disorders. Br Med Bull 45:772–787.
Consalez GG, Thomas NS, Stayton CL, Knight SJ, Johnson M, Hopkins LC, Harper PS, Elsas LJ, Warren ST. 1991. Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. AM J Hum Genet 48:468–480.
Speer MC, Yamaoka LH, Gilchrist JH, Gaskell CP, Stajich JM, Vance JM, Kazantsev A, Lastra AA, Haynes CS, Beckmann JS, Cohen D, Weber JL, Roses AD, Pericak-Vance MA. 1992. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 50:1211–1217.
Speer MC, Yamaoka LH, Gilchrist JM, Westbrook C, Stajich JM, Gaskell CP, Roses AD, Pericak-Vance M. 1993. Evidence for genetic heterogeneity in the dominant form of limb-girdle muscular dystrophy. Am J Hum Genet 53(Suppl):A1082.
Fougcrousse F, Broux O, Richard I, Allamand V, de Souza AP, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Chiannilkulchai N, Hillaire D, Bui H, Chumakov I, Weissenbach J, Cherif D, Cohen D, Beckmann J. 1994. Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy. Hum Mol Genet 3:285–293.
Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, Nashef L, Bushby KM. 1994. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 3:455–457.
Wijmenga C, van-Deutekom JC, Hewitt JE, Padberg GW, van-Ommen GJ, Hofker MH, Frants RR. 1994. Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. Genomics 19:21–26.
Duclos F, Rodius F, Wrogemann K, Mandel JL, Koenig M. 1994. The Friedreich ataxia region: Characterization of two novel genes and refinement of the critical region to 300 kb. Hum Mol Genet 3:909–914.
Rodius F, Duclos F, Wrogemann K, LePaslier D, Ougen P, Billault P, Belal S, Musanger C, Brice A, Durr A, Weissenbach J, Cohen D, hentati F, Ben Hamida M, Mandel JL, Koenig M. 1994. Recombinations in individuals homozygous by descent localise the Friendreich ataxia locus in a cloned 450 kb interval. Am J Hum Genet 54:1050–1059.
Ben-Hamida M, Belal S, Sirugo G, Ben-Hamida C, Panayides K, Lonannou P, Beckmann J, Mandel JL, Hentati F, Koenig M, Middleton L. 1993. Friedreich’s ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families [comments]. Neurology 43:2179–2183.
Ben Hamida C, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gyapay G, Vignal A, Le Paslier D, Cohen D, Pandolfo M, Mokini V, Novelli G, Hentati F, Ben Hamida M, Mandel JL, Koenig M. 1993. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to proximal 8q by homozygosity mapping. Nature Genet 5:195–200.
Matsumura K, Tomé FM, Ionasescu V, Ervasti JM, Anderson RD, Romero NB, Simon D, Recan D, Kaplan JC, Fardeau M, Campbell KP. 1993. Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin. J Clin Invest 92:866–871.
Wrogemann K, Pena SDJ. 1976. Mitochondrial calcium overload: A general mechanism for cell necrosis in muscle diseases. Lancet 1:672–674.
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Wrogemann, K. (1995). Genetically Determined Cardiomyopathies in Neuromuscular Diseases. In: Dhalla, N.S., Pierce, G.N., Panagia, V., Beamish, R.E. (eds) Heart Hypertrophy and Failure. Developments in Cardiovascular Medicine, vol 169. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-1237-6_3
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