Centronuclear myopathy with special consideration of the adult form

European Neurology

Volumn 23, Issue 6, 1984, Pages 425-434

  Goebel, H H ^a   Mein Ck, H M ^b   Reinecke, M ^c   Schimrigk, K ^d   Mielke, V ^d  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b Department of Clinical Neurophysiology ^*  (Germany)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

^d SAARLAND UNIVERSITY   (Germany)

Author keywords

Adult type; Centronuclear myopathy; Congenital myopathy; Electromyography; Electron microscopy; Minicores

Indexed keywords

CENTRONUCLEAR MYOPATHY; CONGENITAL DISORDER; CYTOLOGY; DIAGNOSIS; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ETIOLOGY; HISTOCHEMISTRY; HISTOLOGY; HUMAN; MAJOR CLINICAL STUDY; MUSCLE; PRIORITY JOURNAL; ULTRASTRUCTURE;

ADULT; BIOPSY; CYTOSKELETON; ELECTROMYOGRAPHY; FEMALE; HUMANS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MOTOR NEURONS; MUSCLES; MUSCULAR ATROPHY; NEURAL CONDUCTION; NEUROMUSCULAR DISEASES; PERONEAL NERVE; REFLEX, STRETCH; SURAL NERVE;

EID: 0021691696     PISSN: 00143022     EISSN: 14219913     Source Type: Journal    
DOI: 10.1159/000115725     Document Type: Article

References (27)

1. Barih, P.O.; Wijngaarden, G.K. van; Bethlem, J.: X-linked myotubular myopathy with fatal neonatal asphyxia. Neurology. Minneap. 25: 531-536 (1975).
2. Bender, A.N.; Bender, M.B.: Muscle fiber hypotrophy with intact neuromuscular junctions. Neurology, Minneap. 27: 206-212 (1977).
3. Bergen, B.J.; Carry, M.P.; Wilson, W.B.; Barden, M.T.; Ringel, S.P.: Centronuclear myopathy: ex-traocular and limb-muscle findings in an adult. Muscle Nerve 3: 165-171 (1980).
4. Bethlem, J.; Wijngaarden, G.K. van; Mumenthaler, M.; Meijer, A.E.F.H.: Centronuclear myopathy with type I fiber atrophy and ‘myotubes’. Archs Neurol. 23: 70-73 (1970).
5. Bill, P.L.A.; Cole, G.; Proctor, N.S.F.: Centronuclear myopathy. J. Neurol. Neurosurg. Psychiat. 42: 548-556 (1979).
6. Bradley, W.G.; Prince, D.L.; Watanabe, C.K.: Familial centronuclear myopathy. J. Neurol. Neurosurg. Psychiat. 33: 687-693 (1970).
7. Brooke, M.H.; Carroll, J.E.; Ringel, S.P.: Congenital hypotonia revisited. Muscle Nerve 2: 84-100 (1979).
8. Dubowitz, V.; Brooke, M.H.: Muscle biopsy: a modern approach (Saunders, London 1973).
9. Engel, W.K.; Gold, G.N.; Karpali, G.: Type I fiber hypotrophy and central nuclei. Archs Neurol. 18: 435-444 (1968).
10. Fardeau, M.; Godet-Guillain, J.; Tomé, F.M.S.; Carson, S.; Whalen, R.G.: Congenital neuromuscular disorders: a critical review; in Aguayo, Karpati, Current topics in nerve and muscle research, pp. 164-177 (Excerpta Medica, Amsterdam 1979).
11. Goebel, H.H.; Prange, H.; Gullotta, F.; Kiefer, H.; Jones, M.Z.: Becker’s X-linked muscular dystrophy. Histological, enzymehistochemical, and ultrastructural studies of two cases, originally reported by Becker. Acta neuropath. 46: 69-77 (1979).
12. Harriman, D.G.F.; Haleem, M.A.: Centronuclear myopathy in old age. J. Path. 108: 237-247 (1972).
13. Headington, J.T.; McNamara, J.O.; Brownell, A.K.: Centronuclear myopathy: histochemistry and electron microscopy. Archs Path. 99: 16-24 (1975).
14. Inokuchi, T.; Umezaki, H.; Santa, T.: A case of type I muscle fibre hypotrophy and internal nuclei. J. Neurol. Neurosurg. Psychiat. 38: 475-482 (1975).
15. Jadro-Šantel, D.; Grčevič, N.; Dogan, S.; Franjić, J.; Benc, H.: Centronuclear myopathy with type I fibre hypotrophy and ‘fingerprint’ inclusions associated with Marfan’s syndrome. J. neurol. Sci. 45: 43-56 (1980).
16. Karpati, G.; Carpenter, S.; Nelson, R.F.: Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease. J. neurol. Sci. 10: 489-500 (1970).
17. Lee, Y.S.; Yip, W.C.L.: A fatal congenital myopathy with severe type I fibre atrophy, central nuclei and multicorcs. J. neurol. Sci. 50: 277-290 (1981).
18. McLeod, J.G.; Baker, W.D.C.; Lethlean, A.K.; Shorey, C.D.: Centronuclear myopathy with autosomal dominant inheritance. J. neurol. Sci. 15: 375-387 (1972).
19. Monier, W.; Michaelis, E.; Becker, J.; Gerhard, L.: Centronucleäre Myopathie mit autosomal dominantem Erbgang. Hum. Genet. 27: 199-215 (1975).
20. Pavone, L.; Mollica, F.; Grasso, A.; Pero, G.: Familial centronuclear myopathy. Acta neur. scand. 62: 41-54 (1980).
21. Pongratz, D.; Heuser, M.; Mittelbach, F.; Struppler, A.: Die sogenannte congenitale ccntronucleäre Myopathie - eine primäre Neuropathie? Acta neuropath. 32: 9-19 (1975).
22. Radu, H.; Lonescu, V.; Radu, A.; Paler, V.; Rosu, A.M.; Marian, A.: Hypotrophic type I muscle fibres with central nuclei, and central myofibrillar lysis preferentially involving type II fibres. Eur. Neurol. 11: 108-127 (1974).
23. Samat, H.B.; Roth, S.I.; Jimenez, J.F.: Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle. J. Can. Sci. Neurol. 8: 313-320 (1981).
24. Sher, J.H.; Rimalovski, A.B.; Athanassiades, T.J.; Aronson, S.M.: Familial centronuclear myopathy. Neurology, Minncap. 17: 727-742 (1967).
25. Spiro, A.J.; Shy, G.M.; Gonatas, N.K.: Myotubular myopathy. Archs Ncurol. 14: 1-14 (1966).
26. Sugie, H.; Rasmussen, G.E.; Verity, M.A.: Adult onset type II fiber centronuclear neuromyopathy with segmental demyelination. Brain Dev. 4: 7-12 (1982).
27. Vital, C.; Vallat, J.M.; Martin, F.; Le Blanc, M.; Bergouignan, M.: Etude clinique et ultrastructurale d’un cas de myopathie centronucléaire (myotubular myopathy) de 1’adulte. Revue neurol. 123: 117-130 (1970).