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

• Published in: Journal of medical genetics Vol. 30; no. 5; pp. 385 - 387
• Main 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
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-05-1993; BMJ; BMJ Publishing Group LTD
• Subjects: Amyloidosis; Biological and medical sciences; Brazil; Chromosomes, Human, Pair 15; DNA - analysis; DNA Probes; Female; Genetic Linkage; Genotype; heterogeneity; Humans; linkage analysis; Lod Score; Male; man; Medical sciences; Metabolic diseases; Muscular Dystrophies - genetics; muscular dystrophy; Other metabolic disorders; Pedigree; probes; Sweden; Europe; Brazil; Human; Proteins; Nervous system diseases; Age of onset; Family study; Metabolic diseases; Amyloidosis; Peripheral nerve disease; Polyneuropathy; Enzymopathy; Genetic disease
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.30.5.385

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.