家族性运动障碍与面肌颤搐一例并文献复习
Journal of Southeast University(Medical Science Edition)(2018)
Abstract
遗传因素在早发性运动障碍发病中起重要作用,国外已报道了20余种致病基因[1-5].最近国外报道了一系列ADCY5基因突变所致早发性运动障碍的病例[6-10],国内未见报道.作者对南京医科大学附属儿童医院1例ADCY5基因突变相关的家族性运动障碍与面肌颤搐患者的临床资料进行分析,并复习相关文献,以期提高临床医师对该病的认识.
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