Duchenne型肌营养不良症一家系
CHINESE JOURNAL OF MEDICAL GENETICS（2008）
Abstract
先证者(Ⅳ3)男,10岁,因"行走困难8年"于2007年4月来我院门诊.患者自小会走晚,2岁才会走,行走慢、不稳,不能跑,上坡困难,渐出现四肢肌肉萎缩,近一年半出现小腿增粗.查体:四肢肌肉萎缩,近端明显,双侧腓肠肌肥大,四肢肌力Ⅳ度,Cower's sign(+),行走呈鸭步态,行走缓慢.辅助检查:肌酸激酶(CK)3824 IU/L,EMG示肌源性损害.
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