کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3080697 | 1189349 | 2009 | 4 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Cap disease due to mutation of the beta-tropomyosin gene (TPM2) Cap disease due to mutation of the beta-tropomyosin gene (TPM2)](/preview/png/3080697.png)
Cap disease or cap myopathy is a form of congenital myopathy in which peripheral, well-demarcated ‘caps’ of disorganised thin filaments are seen in muscle fibres. Mutation of the TPM2 gene, that encodes beta-tropomyosin, is the first reported genetic cause. In this paper, we describe a further case of cap disease due to a mutation in TPM2, confirming the importance of this genetic association. This is the first report of cardiac dysfunction due to a mutation in TPM2. Our patient has an identical TPM2 mutation to the first genetically diagnosed cap disease patient, a denovo heterozygous three base pair deletion that removes glutamic acid 139 from the centre of beta-tropomyosin (p.E139del). 2D-gel electrophoresis studies show that the shortened mutant protein incorporates into sarcomeric structures, where it likely imposes a dominant-negative effect to cause muscle weakness.
Journal: Neuromuscular Disorders - Volume 19, Issue 5, May 2009, Pages 348–351