Myopathies resulting from mutations in sarcomeric proteins

Abstract excerpt

PURPOSE OF REVIEW: The past decade has seen the discovery of the major role that mutations in the protein components of the sarcomere plays as a cause of human muscle disease. An overview of the more precise molecular definitions of these diseases is timely. RECENT FINDINGS: Recent findings include: the beginnings of an understanding of the role of the sarcomere in controlling muscle gene expression; the...

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