临床神经病学杂志2011，Vol.24Issue(2)：81-83,3.
腓骨肌萎缩症的临床、病理学及遗传学特点(附1家系报告)
Clinical, pathological and hereditary features of Charcot-Marie-Tooth disease ( report of 1 family)
摘要
Abstract
Objective To investigate the clinical, pathological and hereditary features of Charcot-Marie-Tooth disease (CMT). Methods Clinical data of a patient with CMT and his family were analyzed retrospectively.Results The main clinical manifestations of the patients in the family were congenital chronic progressive muscle weakness and atrophy at the distal end of both lower extremities, and some with upper extremities, disappearance of tendon reflexes, hypoesthesia of both lower extremities, and pes cavus. Electrophysiological examination showed peripheral nervous lesion. The median nerve conduction velocities were all ＞ 38 m/s. The muscle biopsy of proband showd atrophy of Ⅰ type muscle fiber. The sural nerve biopsy showed the number of myelinated fibers decreased, the axonal atrophy, but the onion-like structures was not found. Family survey showed X-linked recessive inheritance.Cx32 gene was screened and no useful mutation was found. Conclusions The clinical and pathological manifestations of this family appertain to CMT2, and the hereditary features appertain to X-linked recessive inheritance. The pathogenic gene is still unclear.关键词
腓骨肌萎缩症/家系/神经活检/Cx32基因Key words
Charcot-Marie-Tooth disease/ family/ nerve biopsy/ Cx32 gene分类
医药卫生引用本文复制引用
牛琦,侯祚琼,金庆文,张炳峰,王发胜,丁新生,张平..腓骨肌萎缩症的临床、病理学及遗传学特点(附1家系报告)[J].临床神经病学杂志,2011,24(2):81-83,3.基金项目
江苏省自然科学基金项目(BK2007607) （BK2007607）
