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A TPM3 mutation causing cap myopathy.
- Source :
-
Neuromuscular disorders : NMD [Neuromuscul Disord] 2009 Oct; Vol. 19 (10), pp. 685-8. Date of Electronic Publication: 2009 Jun 23. - Publication Year :
- 2009
-
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.
Details
- Language :
- English
- ISSN :
- 1873-2364
- Volume :
- 19
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Neuromuscular disorders : NMD
- Publication Type :
- Academic Journal
- Accession number :
- 19553118
- Full Text :
- https://doi.org/10.1016/j.nmd.2009.06.365