Mutation screening of a large cohort of nemaline myopathy

Abstract

Nemaline myopathy is one of the most common forms of congenital myopathy characterized pathologically by presence of nemaline rods in muscle fibers. Clinical features are quite variable from severe infantile form to adult onset milder form. Genetic diagnosis is not easy because several causative genes have been identified including a very much big gene like NEB. To know the frequency and clinical and pathological characteristics of each causative genes of nemaline myopathy. We chose more than 200 patients who were pathologically diagnosed to have nemaline myopathy from muscle repository in the National Center of Neurology and Psychiatry, Japan. Mutation screening is on going using a combinat..