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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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作者 ching chor kwan LAU Kwok Kwong +2 位作者 YU Kwok Wai CHAN Yan Wo Albert MAK Miu Chloe 《Chinese Medical Journal》 SCIE CAS CSCD 2010年第11期1466-1469,共4页
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 progress... 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: 展开更多
关键词 Charcot-Marie-Tooth type 2A mitofusin 2 gene Hong Kong
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