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A TPM3 mutation causing cap myopathy.

Abstract : Cap disease is a rare congenital myopathy associated with skeletal malformations and respiratory involvement. Abnormally arranged myofibrils taking the appearance of a "cap" are the morphological hallmark of this entity. We report a case of cap disease concerning a 42-year-old man, without any family history and presenting a p.Arg168His mutation on the TPM3 gene. His first biopsy at 7years had only shown selective type I hypotrophy. Mutations of TPM3 gene have been found in nemaline myopathy, congenital fiber type disproportion, but never before in cap disease.
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Submitted on : Wednesday, September 8, 2010 - 10:59:00 AM
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André Maues de Paula, Jérôme Franques, Carla Fernandez, Nicole Monnier, Joël Lunardi, et al.. A TPM3 mutation causing cap myopathy.. Neuromuscul Disord, 2009, 19 (10), pp.685-8. ⟨10.1016/j.nmd.2009.06.365⟩. ⟨inserm-00515876⟩



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