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Titolo:
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
Autore:
Muchir, A; Bonne, G; van der Kool, AJ; van Meegen, M; Baas, F; Bolhuis, PA; de Visser, M; Schwartz, K;
Indirizzi:
Grp Hosp Pitie Salpetriere, INSERM, UR523, Inst Myol, F-75013 Paris, France Grp Hosp Pitie Salpetriere Paris France F-75013 l, F-75013 Paris, France Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1105 AZ Z Amsterdam, Netherlands
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 9, volume: 9, anno: 2000,
pagine: 1453 - 1459
SICI:
0964-6906(20000522)9:9<1453:IOMITG>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
INTERMEDIATE FILAMENT PROTEINS; CHROMATIN BINDING-SITE; NUCLEAR-ENVELOPE; SARCOGLYCAN GENE; MIYOSHI MYOPATHY; MISSENSE MUTATIONS; ROD DOMAIN; CARDIOMYOPATHY; DYSFERLIN; MEMBRANE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Bonne, G Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, UR523, Batiment Babinski,47Blvd Hop, F-75651 Paris 13, France Grp Hosp Pitie Salpetriere Batiment Babinski,47 Blvd Hop Paris France 13
Citazione:
A. Muchir et al., "Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)", HUM MOL GEN, 9(9), 2000, pp. 1453-1459

Abstract

LGMD1B is an autosomal dominantly inherited, slowly progressive limb girdle muscular dystrophy, with age-related atrioventricular cardiac conduction disturbances and the absence of early contractures. The disease has been linked to chromosome 1q11-q21, Within this locus another muscular dystrophy, the autosomal dominant form of Emery-Dreifuss muscular dystrophy (AD-EDMD) has recently been mapped and the corresponding gene identified. AD-ADMD is characterized by early contractures of elbows and Achilles tendons and a humero-peroneal distribution of weakness combined with a cardiomyopathy with conduction defects. The disease gene of AD-EDMD is LMNA which encodes lamins A/C, two proteins of the nuclear envelope. In order to identify whether or not LGMD1B and AD-EDMD are allelic disorders, we carried out a search formutations in the LMNA gene in patients with LGMD1B. For this, PCR/SSCP/sequencing screening was carried out for the 12 exons of LMNA on DNA samples of individuals from three LGMD1B families that were linked to chromosome 1q11-q21, Mutations were identified in all three LGMD1B families: a missense mutation, a deletion of a codon and a splice donor site mutation, respectively. The three mutations were identified in all affected members of the corresponding families and were absent in 100 unrelated control subjects. The present identification of mutations in the LMNA gene in LGMD1B demonstrates that LGMD1B and AD-EDMD are allelic disorders. Further analysis of phenotype-genotype relationship will help to clarify the variability of the phenotype observed in these two muscular dystrophies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/04/20 alle ore 20:58:24