[Mutation analysis of a Chinese family with autosomal dominant Emery-Dreifuss muscular dystrophy].

@article{Yuan2010MutationAO,
  title={[Mutation analysis of a Chinese family with autosomal dominant Emery-Dreifuss muscular dystrophy].},
  author={Jun-hui Yuan and Jing Hu and Zhe Zhao and Hong-rui Shen and Na Li and Qi Bing},
  journal={Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics},
  year={2010},
  volume={27 2},
  pages={136-9}
}
OBJECTIVE To investigate the clinical, pathological and genetic characteristics in a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD). METHODS Clinical data and skeletal muscle specimens were collected from two patients (the proband and her daughter) for pathological analysis. DNA samples of the proband and her family members (7… CONTINUE READING