Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families. Issue 5 (May 1993)

• Record Type: Journal Article
• Authors: Passos-Bueno, M R; Richard, I; Vainzof, M; Fougerousse, F; Weissenbach, J; Broux, O; Cohen, D; Akiyama, J; Marie, S K; Carvalho, A A
• Is Part Of: Journal of medical genetics. Volume 30:Issue 5(1993)
• Page Start: 385
• Page End: 387
• Publication Date: 1993-05
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.30.5.385
• Languages: English
• ISSNs: 1468-6244

Abstract

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.