Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
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DOI：
10.1016/s0960-8966(02)00218-3
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发表时间：
2003-02-01
影响因子：
2.8
通讯作者：
Laing, NG
中科院分区：
文献类型：
--
作者：
Davis, MR;Haan, E;Laing, NG
先天性肌病是一组疾病，其特征是在活检肌肉中观察到的特殊组织学特征占主导地位。中枢核心病和线状肌病是先天性肌病的例子，它们具有特定的组织学特征，但临床表现明显重叠。中枢性核心病是一种常染色体显性遗传性疾病，具有可变外显性，主要与骨骼肌钙释放通道(RYR1)基因连锁。最近的两份报告已经确定该基因的3‘跨膜结构域是一个常见的突变部位。另外两项研究报告了同时具有中枢核心疾病和由RYR1突变引起的线状肌病(核心/杆状疾病)特征的单一家庭。应用单链构象多态分析和DNA测序的方法，对RYR1基因3‘端(外显子93-105)突变进行筛查，发现15例患者中有3例已描述突变，9例新突变。(C)2002 Elsevier Science B.V.保留所有权利。
The congenital myopathies are a group of disorders characterised by the predominance of specific histological features observed in biopsied muscle. Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures. Central core disease is an autosomal dominant disorder with variable penetrance which has been linked principally to the gene for the skeletal muscle calcium release channel (RYR1). Two recent reports have identified the 3' transmembrane domain of this gene as a common site for mutations. Two other studies have reported single families that have features of both central core disease and nemaline myopathy (core/rod disease) caused by mutations in RYR1. Screening of the 3' region (exons 93-105) of the RYR1 gene for mutations in 27 apparently unrelated patients with either central core disease or core/rod disease by single strand conformation polymorphism analysis and DNA sequencing identified three described and nine novel mutations in 15 patients. (C) 2002 Elsevier Science B.V. All rights reserved.