DMD基因突变性肌病不同首发表现2例报道并文献复习OA

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.