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Journal articles
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.
Cited literature [18 references]
https://www.hal.inserm.fr/inserm-00515876
Contributor : Nathalie Roux-Buisson <>
Submitted on : Wednesday, September 8, 2010 - 10:59:00 AM
Last modification on : Monday, February 15, 2021 - 3:00:10 PM
Long-term archiving on: : Friday, December 2, 2016 - 12:55:42 AM
Contributor : Nathalie Roux-Buisson <>
Submitted on : Wednesday, September 8, 2010 - 10:59:00 AM
Last modification on : Monday, February 15, 2021 - 3:00:10 PM
Long-term archiving on: : Friday, December 2, 2016 - 12:55:42 AM