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A TPM3 mutation causing cap myopathy.

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Maues de Paula, André | Franques, Jérôme | Fernandez, Carla | Monnier, Nicole | Lunardi, Joël | Pellissier, Jean-François | Figarella-Branger, Dominique | Pouget, Jean

Edité par CCSD ; Elsevier -

International audience. 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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