Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in <i>TPM2</i>-related nemaline and cap myopathy

Abstract excerpt

NM (nemaline myopathy) is a rare genetic muscle disorder defined on the basis of muscle weakness and the presence of structural abnormalities in the muscle fibres, i.e. nemaline bodies. The related disorder cap myopathy is defined by cap-like structures located peripherally in the muscle fibres. Both disorders may be caused by mutations in the TPM2 gene encoding β-Tm (tropomyosin). Tm controls muscle contraction...

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