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Titolo:
A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block
Autore:
Kitaguchi, T; Matsubara, S; Sato, M; Miyamoto, K; Hirai, S; Schwartz, K; Bonne, G;
Indirizzi:
Tokyo Metropolitan Neurol Hosp, Dept Neurol, Tokyo 1830042, Japan Tokyo Metropolitan Neurol Hosp Tokyo Japan 1830042 Tokyo 1830042, Japan GH Pitie Salpetriere, Inst Myol, INSERM, UR523, Paris, France GH Pitie Salpetriere Paris France st Myol, INSERM, UR523, Paris, France
Titolo Testata:
NEUROMUSCULAR DISORDERS
fascicolo: 6-7, volume: 11, anno: 2001,
pagine: 542 - 546
SICI:
0960-8966(200109)11:6-7<542:AMMITE>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL PARTIAL LIPODYSTROPHY; IDENTIFICATION; DISEASE; DOMAIN; LGMD1B; DEATH; LMNA;
Keywords:
limb-girdle muscular dystrophy; cardiac conduction block; lamin A/C; nuclear membrane; lipodystrophy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Matsubara, S Tokyo Metropolitan Neurol Hosp, Dept Neurol, 2-6-1 Musashidai, Tokyo 1830042, Japan Tokyo Metropolitan Neurol Hosp 2-6-1 Musashidai Tokyo Japan 1830042
Citazione:
T. Kitaguchi et al., "A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block", NEUROMUSC D, 11(6-7), 2001, pp. 542-546

Abstract

A case of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction block (LGMD1B) has been documented. In this family, 13 members, nine males and four females, had cardiac arrhythmia requiring pacemakers. The proband, a 67-year-old male, had Ion-standing proximal muscle weakness later associated with cardiac arrhythmia but showed neither rigid spine nor joint contracture. His muscle enzymes were within normal range and muscle biopsy showed myopathic changes. Gene analysis of the proband revealed Tyr481His mutation in the exon 8 of lamin A/C (LMNA) gene which is adjacent to the codon mutated in reported cases of familial partial lipodystrophy. This is the first report of muscular dystrophy shown to have a mutation of LMNA in a Japanese family as well as the first case of missense mutationin the exon 8 with LGMD1B phenotype. (C) 2001 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 08:17:40