Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy

Neuromuscular Disorders

Volumn 7, Issue SUPPL. 1, 1997, Pages

  Tomé, Fernando M S ^a   Chateau, Danielle ^a   Helbling Leclerc, Anne ^a   Fardeau, Michel ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Electron microscopy; Intranuclear inclusions; Muscle biopsy; Oculopharyngeal muscular dystrophy; Rimmed vacuoles

Indexed keywords

ADULT; AGED; CELL NUCLEUS INCLUSION BODY; CELL VACUOLE; CLINICAL ARTICLE; CONFERENCE PAPER; CRICOPHARYNGEUS MUSCLE; ELECTRON MICROSCOPY; EXTRAOCULAR MUSCLE; HUMAN; HUMAN TISSUE; MICROSCOPY; MUSCLE BIOPSY; MUSCLE CELL; MUSCULAR DYSTROPHY; PRIORITY JOURNAL;

ADULT; AGED; BIOPSY; HUMANS; INCLUSION BODIES; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; OCULOMOTOR MUSCLES; PHARYNGEAL MUSCLES; VACUOLES;

EID: 0030813827     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00085-0     Document Type: Conference Paper

References (37)

1. Victor M, Hayes R, Adams RD. Oculopharyngeal muscular dystrophy: a familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. N Engl J Med 1962;267:1267-1272.
2. Barbeau A. The syndrome of hereditary late onset ptosis and dysphagia in French Canada. In: Kuhn E, editor. Progressive Muskeldystrophie. Myotonie. Myasthenie. Berlin: Springer-Verlag, 1966:102-109.
3. Dubowitz V, Brooke MH. Muscle Biopsy: A Modern Approach. Philadelphia: Saunders, 1973:231-241.
4. Tomé FMS, Fardeau M. Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol (Berlin) 1980;49:85-87.
5. Askanas V, Engel WK. New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myositis. Curr Opin Rheumatol 1995;7:486-496.
6. Bouchard JP, Gagné F, Tomé FMS, Brunet D. Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec. Can J Neurol Sci 1989;16:446-450.
7. Tomé FMS, Askanas V, Engel WK, Alvarez RB, Lee CS. Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy. Neurology 1989;39:926-932.
8. Blumen SC, Sadeh M, Korczyn AD. et al. Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews. Neurology 1996;46:1324-1328.
9. Tomé FMS, Fardeau M. Oculopharyngeal muscular dystrophy. In: Engel AG, Franzini-Armstrong C, editors. Myology, 2nd edn, Vol. 2. New York: McGraw-Hill, 1994:1223-1235.
10. Tomé FMS, Leroy JP. Neville H. et al. Intranuclear tubulo-filamentous inclusions as morphological marker of oculopharyngeal muscular dystrophy (abstract). Muscle Nerve 1986;9(Suppl):212.
11. Medici M, de Tenyi A, Tomé FMS. Oculopharyngeal dystrophy: clinical, computed tomography study and ultramicroscopy findings (abstract). Neurology 1989:39(Suppl 1):336.
12. Martin JJ. On some myopathies with oculomotor involvement. Acta Neurol Belg 1987;87:207-228.
13. Schmalbruch H. The muscular dystrophies. In: Mastaglia FL, Lord Walton of Detchant, editors. Skeletal muscle pathology, 2nd edn. Edinburgh: Churchill Livingstone, 1992:283-318.
14. Busch-Hettwer H, Goebel HH, Krohne G. Immunocytochemical studies on the nuclear ultrastructure in oculopharyngeal muscular dystrophy (OPMD) with monoclonal antibodies against lamin (abstract). Clin Neuropathol 1991;10:266.
15. Probst A, Tackmann W, Stoeckli HR, Jerusalem F, Ulrich J. Evidence for a chronic axonal atrophy in oculopharyngeal 'muscular dystrophy'. Acta Neuropathol (Berlin) 1982;57:209-216.
16. Uyama E, Nohira O, Chateau D. et al. Oculopharyngeal muscular dystrophy in two unrelated Japanese families. Neurology, 1996;46:773-778.
17. Tomé FMS, Fardeau M. Nuclear changes in muscle disorders. Methods Achiev Exp Pathol 1986;12:261-296.
18. Fardeau M, Tomé FMS. The oculopharyngeal muscular dystrophy in France. Neuromusc Disord 1997;this supplement.
19. Fukuhara N, Kumamoto T, Tsubaki T. Rimmed vacuoles. Acta Neuropathol (Berlin) 1980;51:229-235.
20. Leclerc A, Tomé FMS, Fardeau M. Ubiquitin and β-amyloid protein in inclusion body myositis (IBM), familial IBM-like disorder and oculopharyngeal muscular dystrophy: an immunocytochemical study. Neuromusc Disord 1993;3:283-292.
21. Banker BQ, Engel AG. Basic reactions of muscle. In: Engel AG, Franzini-Armstrong C, editors. Myology, 2nd edn, Vol. 1. New York: McGraw-Hill, 1994:833-888.
22. Askanas V, Serdaroglu P, Engel WK, Alvarez RB. Immunolocalization of ubiquitin in muscle biopsies of patients with inclusion body myositis and oculopharyngeal muscular dystrophy. Neurosci Lett 1991;130:73-76.
23. Tomé FMS, Gounon P, Collin H, Ploton D, Shelanski ML, Fardeau M. Intranuclear inclusions in oculopharyngeal muscular dystrophy (OPMD): further studies (abstract). Neurology 1989;39(Suppl 1):335.
24. Yunis E, Samaha FJ. Inclusion body myositis. Lab Invest 1971;25:240-248.
25. Serratrice G, Pellissier JF. Myopathies oculaires: étude nosologique de 49 cas. Presse Méd 1987;16:1969-1974.
26. Coquet M, Vital C, Julien J. Presence of inclusion body myositis-like filaments in oculopharyngeal muscular dystrophy. Ultrastructural study of 10 cases. Neuropath Appl Neurobiol 1990;16:393-400.
27. Smith TW, Chad D. Intranuclear inclusions in oculopharyngeal dystrophy (letter). Muscle Nerve 1984;7:339-340.
28. Martin JJ, Ceuterick CM, Mercelis RJ. Nuclear inclusions in oculopharyngeal muscular dystrophy. Muscle Nerve 1982;5:735-737.
29. Bernhard W. A new staining procedure for electron microscopical cytology. J Ultrastruct Res 1969;27:250-265.
30. Leroy JP, Missoum A, Bastard J, Goas JY, Ninon A, Lesquin C. Étude morphologique d'un cas de dystrophie oculo-pharyngée. A propos d'une famille bretonne. Rev Otoneuroophtalmol 1981;53:139-143.
31. Coquet M, Vallat JM, Vital C. et al. Nuclear inclusions in oculopharyngeal dystrophy. An ultrastructural study of 6 cases. J Neurol Sci 1983;60:151-156.
32. Friol-Vercelletto M, Mussini JM, Dumas-Guillemot A, Denis G, Lavenant-Oger F, Féve JR. Observation familiale de dystrophie oculo-pharyngée: un cas. Rev Otoneuroophtalmol 1983;55:329-335.
33. Tomé FMS, Gounon P, Borg K, Collin H, Ohayon H, Fardeau M. Immunocytochemistry of the muscle fiber nucleus (abstract). J Neurol Sci 1990;98 (Suppl ):59.
34. Serratrice G, Pellissier JF, Desnuelle C, Pouget J. Myopathies mitochondriales et myopathies oculaires (62 cas). Rev Neurol 1991;147:474-475.
35. Goas JY, Leroy JP, Mocquard Y, Rouhart F. Un cas de myopathie mitochondriale dans une famille de myopathie oculo-pharyngée. Rev Neurol 1991;147:536-537.
36. Sadeh M, Pauzner R, Blatt I, Mouallem M, Farfel Z. Mitochondrial abnormalities in oculopharyngeal muscular dystrophy (letter). Muscle Nerve 1993;16:982-983.
37. Brais B, Xie Y-G, Sanson M, et al. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q112-q13. Hum Mol Genet 1995;4:429-434.