伴肌纤维颤搐的X连锁型夏科-马里-图斯病：一家系报告

X-linked Charcot-Marie-Tooth disease with myokymia: report of a family.

作者信息

Chakravarty A, Ghosh B, Sengupta S, Mukhopadhyay S

机构信息

Vivekananda Institute of Medical Sciences and B. R. Singh Hospital and Research Center, Calcutta, India.

出版信息

Neurol India. 2003 Sep;51(3):385-7.

PMID:14652447

Abstract

The clinical and electrophysiologic profiles of two brothers suffering from Charcot-Marie-Tooth disease are presented. Both had widespread muscle twitching in the legs which showed electrophysiologic features of myokymia. Pedigree analysis suggested an x-linked recessive form of inheritance. This appears to be the first report of an Indian family with x-linked Charcot-Marie-Tooth disease.

摘要

本文介绍了两名患有夏科-马里-图思病（Charcot-Marie-Tooth disease）兄弟的临床和电生理特征。两人腿部均有广泛的肌肉抽搐，电生理检查显示有肌纤维颤搐的特征。家系分析提示为X连锁隐性遗传方式。这似乎是关于一个患有X连锁夏科-马里-图思病的印度家族的首例报告。