Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy

Several studies are conducted to determine the causes and effects of a lethal congenital myopathy that is inherited in an autosomal-recessive manner and is characterized by the loss of [beta]2-syntrophin. The disorder is shown to be a result of the mutations caused in contactin-1, a neural adhesion and neuromuscular junction protein.