[Adhalin(alpha-sarcoglycan) gene mutations in patients with malignant limb-girdle muscular dystrophy (MLGMD)...

Malignant limb-girdle muscular dystrophy (MLGMD) (Miyoshi) is considered to be roughly the same as SCARMD (Ben Hamida) in its clinical features and mode of inheritance. Adhalin(alpha-Sarcoglycan) gene mutations have been reported in 51 families with MLGMD/SCARMD including our 8 families. The mutations were found through the adhalin gene, most of which (97%) were, however, found in the region encoding the extracellular domain. The mutations included missense mutation, insertion, and deletion. Half of the families carried C229T mutation which results in the amino acid replacement of Arg77Cys. Mutations were homozygous in 26 of 51 families (51%) and compound heterozygous in 25 families (49%). The heterogeneity of clinical course in MLGMD/SCARMD might be explained mainly by the variety of the mutations.