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BIBTEX RIS

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

1993; BMJ; Volume: 30; Issue: 5 Linguagem: Inglês

10.1136/jmg.30.5.385

1468-6244

Maria Rita Passos‐Bueno, Isabelle Richard, Mariz Vainzof, Françoise Fougerousse, J. Weissenbach, Odile Broux, Daniel Cohen, Jeanne Akiyama, Suely Kazue Nagahashi Marie, Alexandre Carvalho,

Neurogenetic and Muscular Disorders Research

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.