Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred

被引：33
作者：
Dye, Danielle E.
Azzarelli, Biagio
Goebel, Hans H.
Laing, Nigel G.
机构：
[1] Univ Western Australia, Mol Neurogenet Lab, Med Res Ctr,Queen Elizabeth 2 Med Ctr, Western Australian Inst Med Res, Nedlands, WA 6009, Australia
[2] Indiana Univ, Med Ctr, Dept Neuropathol, Indianapolis, IN USA
[3] Johannes Gutenberg Univ Mainz, Dept Neuropathol, D-6500 Mainz, Germany
来源：
NEUROMUSCULAR DISORDERS | 2006年 / 16卷 / 06期
基金：
英国医学研究理事会;
关键词：
myosin storage myopathy; myosin; mutation;
D O I：
10.1016/j.nmd.2006.03.011
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579-585] in two siblings as 'familial myopathy with probable lysis of myofibrils in type I muscle fibres'. Two mutations in the slow skeletal myosin heavy chain gene (MYH7) have recently been associated with the disease in other families. We have identified a novel heterozygous Leu1793Pro mutation in MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy. (C) 2006 Elsevier B.V. All rights reserved.
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收藏
页码：357 / 360
页数：4
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