A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

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摘要 Charcot-Marie-Tooth disease （CMT）, also known as hereditary motor and sensory neuropathies,comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms： Charcot-Marie-Tooth disease （CMT）, also known as hereditary motor and sensory neuropathies,comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms：

作者 CHING Chor Kwan LAU Kwok Kwong YU Kwok Wai CHAN Yan Wo Albert MAK Miu Chloe

机构地区 Chemical Pathology Laboratory. Department of Pathology Department of Medicine and Geriatrics

出处《Chinese Medical Journal》 SCIE CAS CSCD 2010年第11期1466-1469,共4页 中华医学杂志（英文版）

关键词 Charcot-Marie-Tooth type 2A mitofusin 2 gene Hong Kong Charcot-Marie-Tooth type 2A mitofusin 2 gene Hong Kong

分类号 R686 [医药卫生—骨科学]

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Chinese Medical Journal

2010年第11期

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A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

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