Limb girdle muscular dystrophy: A pathological and immunohistochemical reevaluation

Muscle and Nerve

Volumn 21, Issue 5, 1998, Pages 584-590

  Van Der Kooi, A J ^a   Ginjaar, H B ^b   Busch, H F M ^c   Wokke, J H J ^d   Barth, P G ^a   De Visser, M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b LEIDEN UNIVERSITY   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d Academic Hospital Utrecht   (Netherlands)

Author keywords

Limb girdle; Muscle biopsy; Muscular dystrophy; Sarcoglycan

Indexed keywords

SARCOGLYCAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MUSCLE BIOPSY; MYOPATHY; PRIORITY JOURNAL; SCREENING TEST;

CYTOSKELETAL PROTEINS; DYSTROPHIN; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; IMMUNOHISTOCHEMISTRY; MEMBRANE GLYCOPROTEINS; MUSCLES; MUSCULAR DYSTROPHIES; SARCOGLYCANS;

EID: 0031946848     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199805)21:5<584::AID-MUS4>3.0.CO;2-4     Document Type: Article

References (10)

1. Bashir R, Strachan T, Keers S, Stephenson A, Mahjnch I, Marconi G, Nashef L, Bushby KMD: A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994;3:455-457.
2. Beckmann JS, Richard I, Hillaire D, Broux O, Antignac C, Bois E, Cann H, Cottingham RW, Jr, Feingold N, Feingold J, Kalil J, Lahtrop GM, Marcadet A, Masset M, Mignard C, Passos-Bueno MR, Pellerain N, Zatz M, Dausset J, Fardeau M, Cohen D: A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci 1991;312:141-148.
3. Ben Hamida M, Fardeau M, Attia N: Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983;6:469-480.
4. 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: Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet 1992;2:315-317.
5. Bethlem J, Van Wijngaarden GK, De Jong J: The incidence of lobulated fibers in the facioscapulohumeral type of muscular dystrophy and the limb-girdle syndromes. J Neurol Sci 1973;1973:351-358.
6. Bönnemann CG, Modi R, N'oguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP, Ozawa E, Kunkel LM: Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995;11:266-273.
7. Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, De Sa Moreira E, Marie SK, Pavanello RCM, Noguchi S, Ozawa E, Zatz M, Kunkel LM: Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD2E). Hum Mol Genet 1996;5:1953-1961.
8. Bradley WG, Jones MZ, Mussini JM, Fawcett PR: Becker-type muscular dystrophy. Muscle Nerve 1978;1:11-132.
9. Bushby K, Beckmann JS: The limb-girdle muscular dystrophies - proposal for a new nomenclature. Neuromuscul Disord 1995;5:337-343.
10. Chutkow JG, Heffner RR, Kramer AA, Edwards JA: Adult on-set autosomal dominant muscular dystrophy. Ann Neurol 1986;20:240-248.