RT Journal Article
SR Electronic
T1 Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 385
OP 387
DO 10.1136/jmg.30.5.385
VO 30
IS 5
A1 M R Passos-Bueno
A1 I Richard
A1 M Vainzof
A1 F Fougerousse
A1 J Weissenbach
A1 O Broux
A1 D Cohen
A1 J Akiyama
A1 S K Marie
A1 A A Carvalho
YR 1993
UL http://jmg.bmj.com/content/30/5/385.abstract
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.