A novel mutation (86insA) in the alpha-sarcoglycan-gene leads to severe childhood autosomal recessive muscular dystrophy

Introduction: Alpha-sarcoglycanopathy is an autosomal recessive muscular dystrophy. The clinical phenotype can vary from mild limb-girdle muscular dystrophy type 2 (LGMD2) to a severe Duchenne-like phenotype (SCARMD). The disease is caused by mutations in the alpha-sarcoglycan gene. We report a case of alpha-sarcoglycanopathy in an adult female patient with onset in the first decade of life and with Duchenne-like phenotype.