R. Bashir et al., A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY MAPS TOCHROMOSOME 2P, Human molecular genetics, 3(3), 1994, pp. 455-457
The limb-girdle muscular dystrophies are a clinically and genetically
heterogeneous group of disorders. We have studied two large inbred fam
ilies of different ethnic origin and excluded linkage to LGMD2 on chro
mosome 15q and SCARMD on chromosome 13. Proceeding to a genomic linkag
e search, we have now identified linkage to markers D2S134 and D2S136
on chromosome 2p (maximum lod score 3.57 at zero recombination). The p
henotype in the two families was similar, with onset in the pelvic gir
dle musculature in the late teens and usually relatively slow progress
ion. This work identifies a second locus for autosomal recessive limb-
girdle muscular dystrophy.