Inherited disorders of sarcomeric proteins

Abstract

The most important advances in sarcomeric protein diseases continue to be the identification of mutated genes responsible for human diseases. These have recently included those that encode skeletal muscle alpha-actin in autosomal dominant and autosomal recessive nemaline myopathy, nebulin and slow alpha-tropomyosin in autosomal recessive nemaline myopathy, and desmin and alpha B-crystallin in desminopathies.