Duchenne型假性肥大型肌营养不良伴散发性腓骨肌萎缩症一家系
CHINESE JOURNAL OF MEDICAL GENETICS（2007）
Abstract
先证者(Ⅴ1) 男,6岁.患儿足月顺产,出生后哭声相对较弱,四肢活动少,于2岁时会走路,4岁时开始行走时容易跌倒,上楼和下蹲后起立困难,行走如鸭子摆步,逐渐加重.查体:体温36.1℃,脉搏100 次/min,体重26 kg,患儿营养发育正常,智力发育正常,四肢肌力Ⅳ度,腱反射减弱,四肢近端肌群肌张力低,轻度肌萎缩;腓肠肌坚实肥大,Gower征阳性,翼状肩.
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