
COLQ基因突变致先天性肌无力综合征1例报告并文献复习
唐春花, 丁青云, 童雪晴, 杨璐, 谭颖, 管宇宙
中风与神经疾病杂志 ›› 2025, Vol. 42 ›› Issue (6) : 554-557.
COLQ基因突变致先天性肌无力综合征1例报告并文献复习
Congenital myasthenic syndrome caused by COLQ gene mutations: A case report and literature review
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