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

Neuromuscular Disorders

Volumn 11, Issue 6-7, 2001, Pages 542-546

  Kitaguchi, Tetsuo ^a   Matsubara, Shiro ^a   Sato, Masaru ^a   Miyamoto, Kazuhito ^a   Hirai, Shunsaku ^a   Schwartz, Ketty ^b   Bonne, Gisèle ^b  

^a TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Cardiac conduction block; Lamin A C; Limb girdle muscular dystrophy; Lipodystrophy; Nuclear membrane

Indexed keywords

LAMIN; NUCLEAR PROTEIN;

ADULT; ARTICLE; ATRIOVENTRICULAR BLOCK; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; ELECTROCARDIOGRAM; EXON; HEART ARRHYTHMIA; HUMAN; IMMUNOFLUORESCENCE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AGED; BIOPSY; EXONS; FEMALE; GENES, DOMINANT; HEART BLOCK; HUMANS; JAPAN; LAMIN TYPE A; LAMINS; LIPODYSTROPHY; MALE; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; NUCLEAR ENVELOPE; NUCLEAR PROTEINS; PEDIGREE;

EID: 0034882439     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00207-3     Document Type: Article

References (17)

1. Emery-Dreifuss muscular dystrophy - a 40 year retrospective
2. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement
3. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21
4. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
5. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
6. European workshop on Emery-Dreifuss muscular dystrophy 1991
7. 43rd ENMC International Workshop on Emery-Dreifuss Muscular Dystrophy, 22 June 1996, Naarden, The Netherlands
8. High incidence of sudden death with conduction system and myocardial disease due to lamins A/C gene mutation
9. Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene
10. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
11. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
12. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
13. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
14. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
15. Detection of mutations in the apolipoprotein CII gene by denaturing gradient gel electrophoresis. Identification of the splice site variant apolipoprotein CII-Hamburg in a patient with severe hypertriglyceridemia
16. Nuclear proteins and cell death in inherited neuromuscular disease
17. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy