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Partial α‐sarcoglycan deficiency with retention of the dystrophin‐glycoprotein complex in a LGMD2D family

In patients with sarcoglycan (SG) deficiency, a primary defect in any one of the four SG proteins usually leads to reduced expression of the whole SG complex. We report a limb‐girdle muscular dystrophy type 2D family (LGMD2D), with variable phenotype, where a mutation in the α‐SG gene resulted in the partial deficiency of α‐SG alone. The normal expression of the other three SG proteins suggests that mutations close to the α‐SG transmembrane domain might be less critical for complex integrity, and that weakness may occur despite its retention. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 984–988, 2000