何展文;柏萍;李平甘;吴若豪;陈启慧;李宇;罗向阳;

• 1:中山大学孙逸仙纪念医院

摘要(Abstract)：

目的探讨层黏连蛋白α2缺陷型先天性肌营养不良的临床表现和遗传学特点。方法回顾分析3例层黏连蛋白α2缺陷型先天性肌营养不良患儿的临床表现、实验室检查、肌肉病理及基因检测资料,并复习相关文献。结果本组患儿男1例,女例2例,临床表现为出生后肌力低下,运动发育落后,1例能独走,2例能独坐。肌酸激酶(CK)中度升高(895～1 414 U/L),肌酸激酶同工酶(CM-MB)轻度升高(34～94 U/L)。头颅MRI示大脑脑白质异常信号。2例患儿肌肉活检,1例Merosin部分表达减弱,局灶缺失,1例Merosin表达明显减弱或缺失。基因检测显示均检测出LAMA2基因复合杂合突变,分别是外显子无义突变(c.7147 C>T、c.7810C>T)、微缺失突变(c.6513_6515del)和内含子杂合突变(c.2451-6A>G、c.3556-13T>A)。结论层黏连蛋白α2缺陷型先天性肌营养不良表现为出生后肌力低下、运动发育落后和典型脑白质病变,肌肉活检及LAMA2基因检测可明确诊断,进行准确的遗传咨询。

关键词(KeyWords)： 先天性肌营养不良;层黏连蛋白;肌肉活检;免疫组化;基因检测

Abstract:

Keywords:

基金项目(Foundation): 2018年中山大学本科教学改革研究项目(编号:81000-18832601)

作者(Authors): 何展文;柏萍;李平甘;吴若豪;陈启慧;李宇;罗向阳;

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