Inherited disorders of sarcomeric proteins


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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 α-actin in autosomal dominant and autosomal recessive nemaline myopathy, nebulin and slow α-tropomyosin in autosomal recessive nemaline myopathy, and desmin and αB-crystallin in desminopathies.

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