Analysis of LAMA2 Gene in Merosin- Deficient Congenital Dystrophy

Congenital muscular dystrophies (CMDs) are a clinically and genetically heterogenous group of muscle disorders, with onset in early infancy, and autosomal recessive inheritance (1 – 3 ). Several forms have been identified: classical or occidental CMD with normal or subnormal intelligence; Fukuyama′s CMD (FEND), prevalent in Japan, characterized by severe mental retardation and major structural brain abnormalities (4 ); and the Walker-Warburg syndrome and muscle-eye-brain disease, both of which are associated with muscle, eye, and brain abnormalities (5 – 7 ).