PT  - JOURNAL ARTICLE
AU  - M R Passos-Bueno
AU  - I Richard
AU  - M Vainzof
AU  - F Fougerousse
AU  - J Weissenbach
AU  - O Broux
AU  - D Cohen
AU  - J Akiyama
AU  - S K Marie
AU  - A A Carvalho
TI  - Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
AID  - 10.1136/jmg.30.5.385
DP  - 1993 May 01
TA  - Journal of Medical Genetics
PG  - 385--387
VI  - 30
IP  - 5
4099  - http://jmg.bmj.com/content/30/5/385.short
4100  - http://jmg.bmj.com/content/30/5/385.full
SO  - J Med Genet1993 May 01; 30
AB  - 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.