CAJ | 학술논문

目的分析5例症状性女性迪谢内肌营养不良(DMD)基因携带者临床、骨骼肌病理和基因突变特点.方法 5例女性患者的发病年龄为生后至54岁,其中1例有DMD家族史.2例表现为四肢近端无力,1例心肌病伴随肌痛,1例四肢无力伴随室间隔缺损,1例运动不耐受.5例患者血清肌酸激酶均升高(1 000～ 31 815 U/L).4例患者行骨骼肌病理检查,5例患者均行多重连接探针扩增方法检测DMD基因突变,1例用荧光原位杂交技术分析染色体核型.结果 4例患者骨骼肌组织化学染色均呈肌营养不良样改变,1例抗肌萎缩蛋白完全丢失,3例灶性丢失.基因检测证实4例患者存在DMD外显子缺失突变,1例患者染色体存在t(x;5) (p21;p14).结论症状性女性DMD基因携带者的临床表现和骨骼肌抗肌萎缩蛋白表达下降程度更倾向于贝克肌营养不良,我国症状性女性DMD基因携带者也存在染色体易位.
목적 분석5례증상성녀성적사내기영양불량(DMD)기인휴대자림상、골격기병리화기인돌변특점.방법 5례녀성환자적발병년령위생후지54세,기중1례유DMD가족사.2례표현위사지근단무력,1례심기병반수기통,1례사지무력반수실간격결손,1례운동불내수.5례환자혈청기산격매균승고(1 000～ 31 815 U/L).4례환자행골격기병리검사,5례환자균행다중련접탐침확증방법검측DMD기인돌변,1례용형광원위잡교기술분석염색체핵형.결과 4례환자골격기조직화학염색균정기영양불량양개변,1례항기위축단백완전주실,3례조성주실.기인검측증실4례환자존재DMD외현자결실돌변,1례환자염색체존재t(x;5) (p21;p14).결론 증상성녀성DMD기인휴대자적림상표현화골격기항기위축단백표체하강정도경경향우패극기영양불량,아국증상성녀성DMD기인휴대자야존재염색체역위.
Objective To analyze the clinical,myopathological and genetic features in 5 female manifesting carriers of Duchenne muscular dystrophy (DMD).Methods The age of onset of these 5 patients were from birth to 54 years old,one of which had a family history of DMD.Two patients presented with proximal weakness,one with myalgia and dilated cardiomyopathy,one with limb weakness and ventricular septal defect,and one with exercise intolerance.Serum creatine kinase concentrations were between 1 000-31 815 U/L.Muscle biopsies were performed in 4 patients.Dystrophin gene mutation analyses were carried out in 5 patients by multiplex ligation-dependent probe amplification.Karyotype study was done in one patient who had no dystrophin gene mutation.Results Muscle biopsy revealed markedly decreased dystrophin expression in one patient and a mosaic pattern with some fibers lacking or partially expressing dystrophin in 3 patients.Four patients were identified carrying exonic deletions of dystrophin gene and one had t(x;5) (p21 ;p14).Conclusions The clinical manifestations and myopathological changes are more compatible with Becker muscular dystrophy.Chromosome translocation can be detected in Chinese female manifesting carrier.