Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3080825 | Neuromuscular Disorders | 2009 | 4 Pages |
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 7 years 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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Authors
Andre Maues De Paula, Jerome Franques, Carla Fernandez, Nicole Monnier, Joel Lunardi, Jean-François Pellissier, Dominique Figarella-Branger, Jean Pouget,