Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.

Détails

ID Serval
serval:BIB_54C661ACAD2B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
Périodique
Journal of Medical Genetics
Auteur⸱e⸱s
Passos-Bueno M.R., Richard I., Vainzof M., Fougerousse F., Weissenbach J., Broux O., Cohen D., Akiyama J., Marie S.K., Carvalho A.A.
ISSN
0022-2593
Statut éditorial
Publié
Date de publication
05/1993
Peer-reviewed
Oui
Volume
30
Numéro
5
Pages
385-387
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classified as LGMD2. Based on results of eight out of 11 large Brazilian LGMD families of different racial background (which were informative for the closest available probe to the LGMD2 gene), we confirmed linkage to the LGMD2 gene at 15q in two of these families and exclusion in six others. These data provide the first evidence of genetic heterogeneity for the autosomal recessive limb-girdle muscular dystrophies.
Mots-clé
Brazil, Chromosomes, Human, Pair 15, DNA/analysis, DNA Probes, Female, Genotype, Humans, Linkage (Genetics), Lod Score, Male, Muscular Dystrophies/genetics, Pedigree
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
20/08/2019 15:09
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