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.
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.
authors.affiliation: Departamento de Biologia, Universidade de São Paulo, Brazil.
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: I
authors.initials: I
authors.lastname: Richard
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: F
authors.initials: F
authors.lastname: Fougerousse
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: O
authors.initials: O
authors.lastname: Broux
authors.forename: D
authors.initials: D
authors.lastname: Cohen
authors.forename: J
authors.initials: J
authors.lastname: Akiyama
authors.forename: S K
authors.initials: SK
authors.lastname: Marie
authors.forename: A A
authors.initials: AA
authors.lastname: Carvalho
mesh_terms: D001938:Brazil; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree
chemical_list: D015342:DNA Probes; D004247:DNA