Skip to main content
SpringerLink
Log in

Die kongenitalen und mit besonderen morphologischen Veränderungen der Muskulatur einhergehenden Myopathien

  • Chapter
Die progressiv-dystrophischen Myopathien

  • 19 Accesses

Zusammenfassung

Unter diesem Begriff werden zahlreiche heterogene Krankheitsbilder größeren Teils erblicher Natur zusammengefaßt, bei welchen meist schon bei der Geburt allgemeine Schwäche oder Hypotonie der Muskulatur, oft beides zugleich, besteht und die Befunde darauf schließen lassen, daß es sich um primäre Myopathien, jedenfalls nicht um neurale bzw. spinale Erkrankungen handelt.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 54.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 69.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur zum Kapitel VI

  1. Adams, R. D., D. Denny-Brown, and C. M. Pearson: Diseases of Muscle. A Study in Pathology. 2nd Edit. New York: Harper & Row 1962.

    Google Scholar 

  2. Afifi, A. K., J. W. Smith, and H. Zellweger: Congenital nonprogressive myopathy. Central core disease and nemaline myopathy in one family. Neurology (Minneap.) 15, 371 (1965).

    CAS  Google Scholar 

  3. Auerbach, L.: Ein Fall wahrer Muskelhypertrophie. Virchows Arch. path. Anat. 53, 397 (1871).

    Article  Google Scholar 

  4. Banker, B. Q., M. Victor, and R. D. Adams: Arthrogryposis multiplex due to congenital muscular dystrophy. Brain 80, 319 (1957).

    Article  PubMed  CAS  Google Scholar 

  5. Bassöe, H. H.: Familial congenital muscular dystrophy with gonadal dysgenesis. J. clin. Endocr. 16, 1614 (1956).

    Article  PubMed  Google Scholar 

  6. Batten, F. E.: Three cases of myopathy. Infantile type. Brain 26, 147 (1903)

    Google Scholar 

  7. Batten, F. E.: Three cases of myopathy. Infantile type. Brain 33, 433 (1910).

    Article  Google Scholar 

  8. Becker, P. E.: Myopathien. In: Humangenetik. Ein kurzes Handbuch. Hrsg. von P. E. Becker. Bd. III/1. Stuttgart: G. Thieme 1964.

    Google Scholar 

  9. Beckmann, R.: Zur Myositis fibrosa. Z. Kinderheilk. 93, 148 (1965).

    Article  PubMed  CAS  Google Scholar 

  10. Beetz, P.: Beitrag zur Lehre von den angeborenen Bewegungsdefekten im Bereich der Augen-, Gesichts-und Schultermuskulatur. J. Psychol. Neurol. (Lpz.) 20, 137 (1913).

    Google Scholar 

  11. Bethlem, J., and F. E. Posthumus Meyjes: Congenital, non-progressive central core disease of Shy and Magee. Psychiat. Neurol. Neurochir. (Amst.) 63, 246 (1960).

    Google Scholar 

  12. Bethlem, J., J. van Gool, W. C. Hülsmann, and A. E. F. H. Meijer: Familial nonprogressive myopathy with muscle cramps after exercise. Brain 89, 569 (1966).

    Article  PubMed  CAS  Google Scholar 

  13. Brandt, S.: Werdnig-Hoffmann’s Infantile Progressive Muscular Atrophy. Copenhagen: Ejnar Munksgaard 1950.

    Google Scholar 

  14. Bruch, F.: Über einen Fall von congenitaler Makroglossie combiniert mit allgemeiner, wahrer Muskelhypertrophie und Idiotie. Dtsch. med. Wschr. 15, 229 (1889).

    Article  Google Scholar 

  15. Coleman, R. F., A. W. Niehuis, W. J. Brown, T. L. Munsat and C. M. Pearson: New myopathy with mitochondrial enzyme hyperactivity. Histochemical demonstration. J. Amer. med. Ass. 199, 624 (1967).

    Article  CAS  Google Scholar 

  16. Conen, P. E., E. G. Murphy, and W. L. Donohue: Light and electron microscopic studies of “myogranules” in a child with hypotonia and muscle weakness. Canad. med. Ass. J. 89, 983 (1963).

    PubMed  CAS  Google Scholar 

  17. Councilman, W. T., and C. H. Dunn: Myatonia congenita. A report of a case with autopsy. Amer. J. Dis. Child. 2, 340 (1911).

    Google Scholar 

  18. Dubowitz, V., and A. G. E. Pearse: Oxydative enzymes and phosphorylase in centralcore disease. Lancet 1960 II, 23.

    Article  Google Scholar 

  19. Dubowitz, V. and M. Platts: Central core disease of muscle with focal wasting. J. Neurol. Neurosurg. Psychiat. 28, 432 (1965).

    Article  PubMed  CAS  Google Scholar 

  20. Engel, A. G.: Late-onset rod myopathy (A new syndrome?). Light and electron microscopic observations in two cases. Mayo Clin. Proc. 41, 713 (1966).

    CAS  Google Scholar 

  21. Engel, W. K.: The essentiality of histo-and cytochemical studies of skeletal muscle in the investigation of neuromuscular disease. Neurology (Minneap.) 12, 778 (1962).

    Google Scholar 

  22. Engel, W. K. A critique of congenital myopathies and other disorders. In: Exploratory concepts in muscular dystrophy and related disorders. Edit. by A. T. Milhorat. Excerpta Medica Foundation, Amsterdam, Int. Congr. Series 147, 27 (1967).

    Google Scholar 

  23. Engel, W. K., J. B. Foster, B. P. Hughes, H. E. Huxley, and R. Mahler: Central core disease. An investigation of a rare muscle cell abnormality. Brain 84, 167 (1961).

    Article  PubMed  CAS  Google Scholar 

  24. Engel, W. K. and J. S. Resnick: Late-onset rod myopathy — a newly recognized, acquired, and progressive disease. Neurology (Minneap.) 16, 308 (1966).

    Google Scholar 

  25. Engel, W. K., T. Wanko, and G. M. Fenichel: Nemaline myopathy, a second case. Arch. Neurol. (Chic.) 11, 22 (1964).

    Article  CAS  Google Scholar 

  26. Ernster, L., D. Ikkos, and R. Luft: Enzymic activities of human skeletal muscle mitochondria, a tool in clinical metabolic research. Nature (Lond.) 184, 1851 (1959).

    Article  CAS  Google Scholar 

  27. Ford, F. R.: Diseases of the Nervous System in Infancy, Childhood and Adolescence. 4th Edit. Springfield: Ch. C. Thomas 1960.

    Google Scholar 

  28. Fukuyama, Y., M. Kawazura, and H. Haruna: A peculiar form of congenital progressive muscular dystrophy. Paediat. jap. 4, 5 (1960).

    Google Scholar 

  29. Goldstein, R.: Congénitale Muskelhypertrophie. Ann. paediat. (Basel) 189, 51 (1957).

    CAS  Google Scholar 

  30. Gonatas, N. K., M. C. Perez, G. M. Shy, and I. Evangelista: Central “core” disease of skeletal muscle. Ultrastructural and cytochemical observations in two cases. Amer. J. Path. 47, 503 (1965).

    PubMed  CAS  Google Scholar 

  31. Gonatas, N. K., G. M. Shy, and E. H. Godfrey: Nemaline myopathy. The origin of nemaline structures. New Engl. J. Med. 274, 535 (1966).

    Article  PubMed  CAS  Google Scholar 

  32. Gruner, J. E.: Sur quelques anomalies mitochondriales observées au cours d’affections musculaires variées. C. R. Soc. Biol. (Paris) 157, 181 (1963).

    CAS  Google Scholar 

  33. Hartmann, W.: Die idiopathische Kaumuskelhypertrophie. Arch. Kinderheilk. 160, 230 (1959).

    PubMed  CAS  Google Scholar 

  34. Hopkins, I. J., J. R. Lindsey, and F. R. Ford: Nemaline myopathy. A long-term clinicopathological study of affected mother and daughter. Brain 89, 299 (1966).

    Article  PubMed  CAS  Google Scholar 

  35. Hudgson, P., D. Gardner-Medwin, J. J. Fulthorpe, and J. N. Walton: Nemaline myopathy. Neurology (Minneap.) 17, 1125 (1967).

    CAS  Google Scholar 

  36. Jewesbury, R. C.: Case of generalized muscular hypertrophy in a boy, aged 10 years. Proc. roy. Soc. Med. 15, Sect. Stud. Dis. Child., p. 34 (1922).

    Google Scholar 

  37. Key, J. A.: Hypermobility of joints as sex linked hereditary characteristics. J. Amer. med. Ass. 88, 1710 (1927).

    Article  Google Scholar 

  38. Krabbe, K. H.: Kongenitale generaliseret muskelaplasi. Nord. Med. 35, 1756 (1947).

    Google Scholar 

  39. de Lange, C.: Studien über angeborene Lähmungen bzw. angeborene Hypotonie. II. Über die angeborene oder frühinfantile Form der Dystrophia musculorum progressiva (Erb). Acta paediat. (Uppsala) 20, Suppl. 3 (1937).

    Google Scholar 

  40. de Lange, C. Congenital hypertrophy of muscles, extrapyramidal motor disturbances and mental deficiency. A clinical entity. Amer. J. Dis. Child. 48, 243 (1934).

    Google Scholar 

  41. Lerebaullet, M. M., et F. Baudouin: Un cas de myatonie congénitale avec autopsie. Bull. Soc. méd. Hôp. Paris 27, 1162 (1909).

    Google Scholar 

  42. Levesque, J., F. Lepage, U. Boeswillwald et J. Grüner: Deux cas de dystrophie musculaire familiale congénitale simulant une maladie de Werdnig-Hoffmann. Arch. franc. Pédiat. 13, 202 (1956).

    PubMed  CAS  Google Scholar 

  43. Lindsey, J. R., I. J. Hopkins, and D. B. Clark: Pathology of nemaline myopathy. Studies of two adult cases including autopsy. Bull. Johns Hopk. Hosp. 119, 378 (1966).

    Google Scholar 

  44. Luft, R., D. Ikkos, G. Palmieri, L. Ernster, and B. Afzelius: A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control. A correlated clinical, biochemical, and morphological study. J. clin. Invest. 41, 1776 (1962).

    Article  PubMed  CAS  Google Scholar 

  45. Metz, K.-O.: Die Bedeutung der Kreatinphosphokinase-Bestimmung im Serum bei Kindern. Dissertation, Göttingen 1963.

    Google Scholar 

  46. Myle, G., J. Radermecker et J. J. Martin: Sur la némaline-myopathie. Psychiat. et Neurol. (Basel) 154, 37 (1967).

    Article  CAS  Google Scholar 

  47. Norris, F. H., and B. J. Panner: Hypothyroid myopathy. Arch. Neurol. (Chic.) 14, 574 (1966).

    Article  Google Scholar 

  48. Oppenheim, H.: über allgemeine und lokalisierte Atonie der Muskulatur (Myatonie) im frühen Kindesalter. Mschr. Psychiat. Neurol. 8, 232 (1900).

    Article  Google Scholar 

  49. Price, H. M., G. B. Gordon, C. M. Pearson, T. L. Munsat, and J. M. Blumberg: New evidence for excessive accumulation of Z-band material in nemaline myopathy. Proc. nat. Acad. Sci. (Wash.) 54/5, 1398 (1965).

    Article  Google Scholar 

  50. Price, H. M., G. B. Gordon, T. L. Munsat, and C. M. Pearson: Myopathy with atypical mitochondria in type I skeletal muscle fibers. J. Neuropath. exp. Neurol. 26, 475 (1967).

    Article  PubMed  CAS  Google Scholar 

  51. Rewcastle, N. B., and J. G. Humphrey: Vacuolar myopathy. Arch. Neurol. (Chic.) 12, 570 (1965).

    Article  CAS  Google Scholar 

  52. Schreier, K., u. R. Huperz: Über die Hypoplasia musculorum generalisata congenita. Ann. paediat. (Basel) 186, 241 (1956).

    CAS  Google Scholar 

  53. Shafiq, S. A., V. Dubowitz, H. Peterson, and A. T. Milhorat: Nemaline myopathy. Report of a fatal case. Brain 90, 817 (1967).

    CAS  Google Scholar 

  54. Sher, J. H., A. B. Rimalovski, Th. J. Athanassides, and St. A. Aronson: Familial centronuclear myopathy. A clinical and pathological study. Neurology (Minneap.) 17, 727 (1967).

    CAS  Google Scholar 

  55. Short, J. K.: Congenital muscular dystrophy. A case report with autopsy findings. Neurology (Minneap.) 13, 526 (1963).

    CAS  Google Scholar 

  56. Shy, G. M., and K. R. Magee: A new congenital non-progressive myopathy. Brain 79, 610 (1956).

    Article  PubMed  CAS  Google Scholar 

  57. Shy, G. M., W. K. Engel, J. E. Somers, and T. Wanko: Nemaline myopathy. Brain 86, 793 (1963).

    Article  PubMed  CAS  Google Scholar 

  58. Shy, G. M. and N. K. Gonatas: Human myopathy with giant abnormal mitochondria. Science 145, 493 (1964).

    Article  PubMed  CAS  Google Scholar 

  59. Shy, G. M. and M. Perez: Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy. Brain 89, 133 (1966).

    Article  PubMed  CAS  Google Scholar 

  60. Sluga, E., F. Seitelberger u. K. Moser: Über eine progressive myopathie mit Muskelphosphorylasemangel und Riesenmitochondrien. Wien. klin. Wschr. 79, 917 (1967).

    PubMed  CAS  Google Scholar 

  61. Sobel, J.: Essential or primary hypotonia in young children. Med. J. Rec. 124, 225 (1926).

    Google Scholar 

  62. Spiro, A. J., and C. Kennedy: Hereditary occurrence of nemaline myopathy. Arch. Neurol. (Chic.) 13, 155 (1965).

    Article  CAS  Google Scholar 

  63. Spiro, A. J., G. M. Shy, and N. K. Gonatas: Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch. Neurol. (Chic.) 14, 1 (1966).

    Article  CAS  Google Scholar 

  64. Sturkie, P. D.: Hypermobile joints in all descendants for two generations. J. Hered. 32, 232 (1941).

    Google Scholar 

  65. Turner, J. W. A.: The relationship between amyotonia congenita and congenital myopathy. Brain 63, 163 (1940)

    Article  Google Scholar 

  66. Turner, J. W. A.: The relationship between amyotonia congenita and congenital myopathy. Brain 72, 25 (1949).

    Article  PubMed  CAS  Google Scholar 

  67. Turner, J. W. A. and F. Lees: Congenital myopathy. A fifty-year follow-up. Brain 85, 733 (1962).

    CAS  Google Scholar 

  68. Vassella, F., M. Mumenthaler, E. Rossi, H. Moser u. U. Wiesmann: Die kongenitale Muskeldystrophie. Dtsch. Z. Nervenheilk. 190, 349 (1967).

    Article  CAS  Google Scholar 

  69. Walton, J. N.: Amyotonia congenita. A follow-up study. Lancet 1956 I, 1023.

    Article  Google Scholar 

  70. Walton, J. N. The limp child. J. Neurol. Neurosurg. Psychiat. 20, 144 (1957).

    Article  PubMed  CAS  Google Scholar 

  71. Walton, J. N. Muscular dystrophy. Somerecent advances in knowledge. Brit. med. J. 1964 I, 1271, 1344.

    Article  Google Scholar 

  72. Weitz, W.: Über einen interessanten Fall von Muskelhypertrophie. Dtsch. Z. Nervenheilk. 71, 330 (1921).

    Article  Google Scholar 

  73. Woods, A. H.: Muscular hypertrophy with muscular weakness. J. nerv. ment. Dis. 38, 532 (1911).

    Article  Google Scholar 

  74. Zellweger, H. U., J. W. Smith, and M. Cusminsky: Muscular hypotonia in infancy; diagnosis and differentiation. Rev. canad. Biol. 21, 593 (1962).

    Google Scholar 

  75. Zellweger, M., and W. E. Bell: Congenital muscular hypertrophy. Neurology (Minneap.) 9, 160 (1959).

    CAS  Google Scholar 

  76. Zintz, R.: Dystrophische Veränderungen in äußeren Augenmuskeln und Schultermuskeln bei der progressiven Graefeschen Ophthalmoplegie. In: Progressive Muskeldystrophie, Myotonie, Myasthenie. Hrsg. von E. Kuhn. Berlin-Heidelberg-NewYork: Springer 1966, S. 109.

    Chapter  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Neurologischen Abteilung des Städt, Rudolf-Virchow-Krankenhauses, Berlin, Deutschland

    Professor Dr. med. Hartwig Heyck (Chefarzt)

  2. Abteilung Klinische Forschung der Schering AG, Berlin, Deutschland

    Privatdozent Dr. med. Gerhard Laudahn (Leiter)

Authors
  1. Professor Dr. med. Hartwig Heyck
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Privatdozent Dr. med. Gerhard Laudahn
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 1969 Springer-Verlag, Berlin · Heidelberg

About this chapter

Cite this chapter

Heyck, H., Laudahn, G. (1969). Die kongenitalen und mit besonderen morphologischen Veränderungen der Muskulatur einhergehenden Myopathien. In: Die progressiv-dystrophischen Myopathien. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-47429-3_6

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-47429-3_6

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-47431-6

  • Online ISBN: 978-3-642-47429-3

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation