SELECTIVE DEFECT OF SARCOGLYCAN COMPLEX IN SEVERE CHILDHOOD AUTOSOMALRECESSIVE MUSCULAR-DYSTROPHY MUSCLE

Dystrophin-associated glycoprotein complex is classified into two subc omplexes: the dystroglycan complex (156DAC and 43DAG) and the sarcogly can complex (50DAG, A3b, and 35DAG). Severe childhood autosomal recess ive muscular dystrophy (SCARMD) was first reported to result from a de ficiency of 50DAG. We examined muscles from five SCARMD patients and f ound that dystrophin and 43DAG were present in almost normal levels wh ile 35DAG and the newly-identified protein A3b in addition to 50DAG we re absent or greatly reduced. Therefore, SCARMD is tile disease with a selective defect of the sarcoglycan complex. (C) 1994 Academic Press, Inc.