郑州大学学报（医学版）2026，Vol.61Issue(2)：23-26,4.DOI:10.13705/j.issn.1671-6825.2025.10.162
DMD基因突变性肌病不同首发表现2例报道并文献复习
DMD gene mutant myopathy with different initial presentations:2 cases reports and literature review
摘要
Abstract
Duchenne muscular dystrophy(DMD)is a rare X-linked recessive hereditary neuromuscular disorder caused by defects in DMD gene encoding dystrophin.This article reports 2 cases of DMD gene mutated myopathy.Case 1:the initial presentations was myocardial injury with a mild increase in myocardial enzymes.Physical examination showed no myasthe-nia.Considering the family history and gene testing,the final diagnosis was dilated cardiomyopathy with abnormal DMD gene(X-linked recessive).Case 2:this patient had a long history of muscular dystrophy.Symptoms of heart failure developed pri-or to the current admission.Based on the patient′s clinical manifestations and gene testing,the diagnosis was DMD.Initial clinical presentations of the 2 cases were different,which may be caused by different DMD gene mutation.关键词
扩张型心肌病/DMD 基因突变/肌营养不良Key words
dilated cardiomyopathy/DMD gene mutation/muscular dystrophy分类
医药卫生引用本文复制引用
李想,兰博,刘志煜,白婧,张金盈,唐俊楠..DMD基因突变性肌病不同首发表现2例报道并文献复习[J].郑州大学学报（医学版）,2026,61(2):23-26,4.基金项目
河南省重点研发专项(241111313300) （241111313300）
河南省临床医学科学家培养专项(HNCMS202418) （HNCMS202418）
河南省中原医学科技创新发展基金会项目(ZYYC2023052D) （ZYYC2023052D）
