When contractile proteins go bad: the sarcomere and skeletal muscle disease.

Abstract excerpt

The sarcomere is the functional unit of striated muscle contraction. Mutations in sarcomeric proteins are now known to cause around 20 different skeletal muscle diseases. The diseases vary in severity from paralysis at birth, to mild conditions compatible with normal life span. The identification of the disease genes allows more accurate diagnosis, including prenatal diagnosis. Although many disease genes have...

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