Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.

Abstract excerpt

Tropomyosin (Tm) and the troponins (troponin I, troponin T and troponin C) are proteins that work cooperatively to regulate muscle contraction, making actin-myosin interactions sensitive to cytosolic calcium levels. Several isoforms exist for each component in this group, each having a specific expression pattern that enables cardiac, slow skeletal (type 1) and fast skeletal (type 2) muscle fibers to have...

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