Charcot-Marie-Tooth disease

被引：186

作者：

Reilly, Mary M. ^{[1
]}

Murphy, Sinead M. ^{[1
]}

Laura, Matilde ^{[1
]}

机构：

[1] Natl Hosp Neurol & Neurosurg, UCL Inst Neurol, Dept Mol Neurosci, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England

来源：

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2011年 / 16卷 / 01期

基金：

英国医学研究理事会;

关键词：

Charcot-Marie-Tooth disease; genetics; neuropathy; TRANSFER-RNA SYNTHETASE; HEREDITARY SENSORY NEUROPATHY; GENE-MUTATIONS; PHENOTYPIC-EXPRESSION; HOMOZYGOUS MUTATION; AXONAL NEUROPATHY; MUSCULAR-ATROPHY; MOTOR; LIABILITY; SPTLC1;

D O I：

10.1111/j.1529-8027.2011.00324.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Charcot-Marie-Tooth (CMT) disease is the commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in understanding the molecular basis for many forms of CMT with more than 30 causative genes now described. This has made obtaining an accurate genetic diagnosis possible but at times challenging for clinicians. This review aims to provide a simple, pragmatic approach to diagnosing CMT from a clinician's perspective.

引用

页码：1 / 14

页数：14

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