期刊
CELLULAR SIGNALLING
卷 20, 期 11, 页码 1935-1941出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.cellsig.2008.05.005
关键词
Myotonic dystrophy; DMPK; Neuromuscular disease
类别
资金
- Ministerio de Ciencia y Tecnologia, Spain [SAF2007-63353]
Myotonic dystrophy 1 (DM1) is an autosomal, dominant inherited, neuromuscular disorder. The DM1 mutation consists in the expansion of an unstable CTG-repeat in the 3'-untranslated region of a gene encoding DMPK (myotonic dystrophy protein kinase). Clinical expression of DM1 is variable, presenting a progressive muscular dystrophy that affects distal muscles more than proximal and is associated with the inability to relax muscles appropriately (myotonia), cataracts, cardiac arrhythmia, testicular atrophy and insulin resistance. DMPK is a Ser/Thr protein kinase homologous to the p21-activated kinases MRCK and ROCK/rho-kinase/ROK. The most abundant isoform of DMPK is an 80 kDa protein mainly expressed in smooth, skeletal and cardiac muscles. Decreased DMPK protein levels may contribute to the pathology of DIM 1, as revealed by gene target studies. Here we review current understanding of the structural, functional and pathophysiological characteristics of DMPK. (c) 2008 Elsevier Inc. All rights reserved
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