常染色体显性遗传性微管聚集性肌病存在SCN4A基因突变(附1家系报告)-中国神经精神疾病杂志

常染色体显性遗传性微管聚集性肌病存在SCN4A基因突变(附1家系报告)

单位：北京大学第一医院神经内科; 北京大学第一医院神经内科北京;

分类号：

出版年·卷·期（页码）：2008··第四期（193-197）

摘要：

目的探讨显性遗传性微管聚集性肌病的临床、骨骼肌病理和基因改变特点。方法对显性遗传性微管聚集性肌病1家系进行分析研究,先证者为17岁男性,1岁开始出现发作性面肌、咀嚼肌和四肢肌无力,以及寒冷或活动诱发的肌肉僵硬,发作间期持续性肢体乏力。家族中连续4代10例出现类似临床表现。对先证者及其母亲进行肌肉活检。对母子及家族中无症状者行SCN4A基因序列检测。结果在先证者和其母亲的Ⅱ型肌纤维肌纤维内均发现异常沉积物,分别占所有肌纤维的10%和3%。免疫组织化学染色见病变肌纤维内tau、dysferlin和泛素阳性表达。电镜检查显示沉积物为大量聚集的微管结构。基因测序发现母子两人的SCN4A基因第13号外显子存在T704M突变。结论病理检查证实显性遗传性微管聚集性肌病,该病和SCN4A基因突变有关,出现副肌强直性周期性瘫痪的临床表型。

Objective To describe the clinical, myopathological and genetic features of a Chinese familial autosomal dominant tubular aggregate myopathy. Methods The proband was a 17 years old man, who developed episodic weakness and stiffness of facial, masseter and limb muscle, as well as cold-induced and exercise-induced stiffness since 1 year old. The recurrent attacks lasted several hours to days and attacked twice to 3 times per month. Additionally, He also complained about consistent weakness during the interval...

参考文献：

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