一对兄妹患先天性肌强直症。
Myotonia congenita in a brother and sister.
作者信息
Sultan Tipu, Khan Malik Muhammad Nazir, Humayun Adeel
机构信息
Department of Neurology, Children Hospital, Institute of Child Health, Lahore.
出版信息
J Coll Physicians Surg Pak. 2006 Sep;16(9):604-5.
PMID:16945237
Abstract
Myotonia congenita is a rare channelopathy and carries a good prognosis. Two cases of young siblings are presented detected with difficulty in gait and motor activities. Both had typical hypertrophied body musculature. EMG was diagnostic.
摘要
先天性肌强直是一种罕见的离子通道病，预后良好。本文报告两例年轻的兄弟姐妹，他们在步态和运动活动方面存在困难。两人均有典型的全身肌肉肥大。肌电图检查具有诊断意义。
Zotero 插件