Congenital muscular dystrophy: molecular and cellular aspects

摘要: The congenital muscular dystrophies are a clinically and genetically heterogeneous group of neuromuscular disorders. Each form has characteristic phenotype, but there is overlap between some entities their classification based on combination clinical features the primary or secondary protein defect. Recent studies have identified genetic basis number (11 genes in total) recognised novel pathological mechanism that highlights importance correct posttranslational processing proteins, particular α-dystroglycan. Diagnosis these conditions been aided by availability specific antibodies for each better understanding changes accompany condition. In this review we present major molecular, diagnostic aspects dystrophy with an emphasis more recent developments.