女性假肥大型肌营养不良症家系的临床病理和基因分析.pdfVIP

200 2 22 1 , 200 , . 22, . 1 Chin J Med Genet February Vol No 6 女性假肥大型肌营养不良症家系的临床病理和基因分析 冯慧宇　张成　李中　姚晓黎　曾缨 ( , ) Duchenne muscular dystrophy DMD , DMD , DMD DM D ( , ) , Becker muscular dystrophy BM D dystrophin dystrophin 39 BMD , dystrophin 1/ 3, X ; ; ; X Clinical pathologic studies and genetic analysis of a female Duchenne muscular dystrophy familyFEN G - , , , - , . ( , H ui yu ZHAN G Cheng LI Zhong YA O X iao li ZEN G Ying Dep artment of N eurology First Aff iliated H osp ital, Zhongshan niversity , Guangz hou, Guangdong, 10080 P. R . China. Email: czym @ gz sums. edu. cn) : Corresp onding author ZHA N G Cheng AbstractObjective To invest igate the clinical features of female Duchenne muscular dyst rophy ( DMD) , and find out the onset mechanism. MethodsT he clinical manifestat ions of a female DMD family ; w ere follow ed the immunofluorescence st udies on muscle system and the genet ic analysis w ere carried out . ResultsT he clinical manifestat ions and results of relevant examinations on the DMD w oman in t his family w ere in accordance w it h the typical characteristics of DMD. T he 39-year-old mother of this proband w as not ed to have a clinical feat ure resembling t hat of Becker muscular dyst rophy ( BMD) , and the immunofluorescence analysis revealed that dyst rophin positive fibers and negative fibers co-existed in her muscle. T he dystrophy genetic analysis of the family indicated non-deletions. T he mothers karyotype w as . 39- - found to be normal Co