The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews

Neurology

Volumn 47, Issue 4, 1996, Pages 977-984

  Sivakumar, Kumaraswamy ^a   Dalakas, Marinos C ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CELL INCLUSION; ETHNIC GROUP; FAMILIAL DISEASE; FAMILY STUDY; HUMAN; HUMAN TISSUE; INCLUSION BODY MYOPATHY; JEW; MAJOR CLINICAL STUDY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0029826654     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.47.4.977     Document Type: Article

References (22)

1. Dalakas MC. Polymyositis, dermatomyositis and inclusion body myositis. N Engl J Med 1991;325:1487-1498.
2. Sekul EA, Dalakas MC. Inclusion body myositis: new concepts. Semin Neurol 1993;13:256-263.
3. Mikol J, Engel AG. Inclusion body myositis. In: Engel AG, Franzini-Armstrong C, eds. Myology. New York: McGraw-Hill, 1994:1384-1398.
4. Karpati G, Carpenter S. Pathology of the inflammatory myopathies. In: Mastaglia FL, ed. Bailliere's clinical neurology (Vol 2: Inflammatory myopathies). London: Bailliere Tindall, 1993: 527-556.
5. Massa R, Weller W, Karpati G, Shoubridge E, Carpenter S. Familial inclusion body myositis among Kurdish-Iranian Jews. Arch Neurol 1991;48:519-522.
6. Argov Z, Yarom R. "Rimmed vacuole myopathy" sparing the quadriceps: a unique disorder in Iranian Jews. J Neurol Sci 1984;64:33-43.
7. Sadeh M, Gadoth N, Hadar H, Ben-David E. Vacuolar myopathy sparing the quadriceps. Brain 1993;116:217-232.
8. Neville HE, Baumbach LL, Ringel SP, Russo LS Jr, Sujansky E, Garcia CA. Familial inclusion body myositis: evidence for autosomal dominant inheritance. Neurology 1992;42:897-902.
9. Klingman JG, Gibbs MA. Familial inclusion body myositis [abstract]. Neurology 1991;41(Suppl 1):275.
10. Cole AJ, Kuzniecky R, Karpati G, Carpenter S, Anderman E, Anderman F. Familial myopathy with changes resembling inclusion body myositis and periventricular leucoencephalopathy. Brain 1988;111:1025-1037.
11. Hentati F, Ben Hamida C, Tome F, Oueslati S, Fardeau M, Ben Hamida M. "Familial inclusion body myositis" sparing the quadriceps with asymptomatic leukoencephalopathy in a Tunisian kindred [abstract]. Neurology 1991;41(Suppl 1):422.
12. Illa I, Leon-Monzon M, Dalakas MC. Regenerating and denervated muscle fibers and satellite cells express neural cell adhesion molecule recognized by monoclonal antibodies to natural killer cells. Ann Neurol 1992;31:46-52.
13. Nonaka I, Nobuhiko S, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981;51:141-155.
14. Sunohara N, Nonaka I, Kamei N, Satoyoshi E. Distal myopathy with rimmed vacuole formation: a follow up study. Brain 1989;112:65-83.
15. Matsubara S, Tanabe H. Hereditary distal myopathy with filamentous inclusions. Acta Neurol Scand 1982;65:363-368.
16. Lindberg C, Borg K, Edstrom L, Hedstrom A, Oldfors A. Inclusion body myositis and Welander distal myopathy: a clinical, neurophysiological and morphological comparison. J Neurol Sci 1991;103:76-81.
17. Murakami N, Takemitsu M, Kurashige T, Nonaka I. Significance of rimmed vacuoles in neuromuscular disorders: a comparative immunohistochemical study of inclusion body myositis and distal myopathy with rimmed vacuole formation. Rinsho Shinkeigaku 1994;34:782-787.
18. Borg K, Ahlberg G, Hedberg B, Edstrom L. Muscle fiber degeneration in distal myopathy (Welander): ultrastructure related to immunohistochemical observations on cytoskeletal proteins and leu-19 antigen. Neuromuscul Disord 1993;3:149-155.
19. Barohn RJ, Miller RG, Griggs RC. Autosomal recessive distal dystrophy. Neurology 1991;41:1365-1370.
20. Goebel HH. Desmin-related neuromuscular disorders. Muscle Nerve 1995;18:1306-1320.
21. Horowitz SH, Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathological and electrophysiological study of a larger kinship. Muscle Nerve 1994; 17:151-160.
22. Alvarez RB, Fardeau M, Askanas V, Engel WK, McFerrin J, Tome FMS. Characteristic filamentous inclusions reproduced in cultured innervated muscle fibers from patients with familial "inclusion body myositis." J Neurol Sci 1990;98:178-184.