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

Details

Serval ID
serval:BIB_54C661ACAD2B
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
Journal
Journal of Medical Genetics
Author(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
Publication state
Published
Issued date
05/1993
Peer-reviewed
Oui
Volume
30
Number
5
Pages
385-387
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Abstract
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.
Keywords
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
Yes
Create date
25/01/2008 17:17
Last modification date
20/08/2019 15:09
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