Cap myopathy

Definition:

Cap myopathy is a rare congenital myopathy morphologically characterized by the presence of cap-like structures which are sharply demarcated structures of disorganized thin filaments in the periphery of muscle fibers. These structures are in fact disarranged myofibrils with enlarged Z discs and no thick filaments. The severity of the disease is related to the number of fibers affected. Therefore, patients may present with a neonatal fatal form or have a more stable course of the disease in the infant non-fatal form. Respiratory problems are common. All the currently recognized genes associated with cap myopathy (TPM2, TPM3 and now ACTA1) encode components of the sarcomeric thin filaments.

References:

[1]. Andre Maues De Paula, et al. A TPM3 mutation causing cap myopathy. Neuromuscul Disord. 2009 Oct;19(10):685-8. [Content Brief]

[2]. Michael W Lawlor, et al. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Hum Mutat. 2010 Feb;31(2):176-83. [Content Brief]

[3]. Ryan M Hung, et al. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord. 2010 Apr;20(4):238-40. [Content Brief]

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