期刊
NEUROMUSCULAR DISORDERS
卷 18, 期 12, 页码 922-928出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2008.07.010
关键词
TTN mutation; Titin; Tibial Muscular dystrophy; Distal myopathies
资金
- Samfundet Folkhalsan
- Association Francaise contre les Myopathies (AFM), France
- The Sigrid Juselius Foundation
- The Vaasa Central Hospital
- Academy of Finland
Mutations in C-terminal titin cause autosomal dominant tibial muscular dystrophy (TMD) as reported previously. Samples from 25 new families and 25 sporadic new distal myopathy cases were screened for titin mutations. Three novel Mutations were discovered in two families from Spain and two families from France. Two mutations, g.292998delT and g.293376delA lead to frameshift and premature stop codons in the second last and the last titin gene (TTN) exons, Mex5 and Mex6, respectively. The third was a nonsense mutation g.293379C > T (p.Q33396X) in Mex6. Patients with the upstream Mex5 mutation showed a more severe phenotype with earlier onset implying a genotype-phenotype correlation. (C) 2008 Elsevier B.V. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据