No abstract

Mutations in the sarcoglycan (SG) genes cause a subset of limb‐girdle muscular dystrophies (LGMD). We report a Spanish patient with progressive LGMD exhibiting an almost isolated loss of γ‐SG and a homozygous Δ521‐T mutation in the γ‐SG gene. These results suggest that isolated loss of γ‐SG might remain undetected using only the α‐SG antibody in routine muscle biopsy studies. Both α‐ and γ‐SG antibodies should be used in the diagnostic detection of patients with LGMD. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 421–424, 2001

Differential diagnosis of limb-girdle muscular dystrophy, including alpha-sarcoglycanopathy and Duchenne muscular dystrophy, is impossible to acheive on clinical grounds alone; therefore immunohistology, Western blotting and molecular genetic analysis are manadatory for a correct diagnosis. The patient's genotype with a hitherto unknown mutation (Tyr134STOP) in exon 5 adds to the growing spectrum of mutations in the alpha-sarcoglycan gene.