Article
Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy.
Molecular medicine reports - 1 May 2016
Liu Xinhong, Wu Huamin, Gong Jian, Wang Tao, Yan Chuanzhu
Abstract excerpt
The aim of the present study was to report on a family with pathologically and genetically diagnosed autosomal dominant inherited centronuclear myopathy (CNM). In addition, this study aimed to investigate the clinical, pathological and molecular genetic characteristics of the disease. This pedigree was traced back three generations, four patients underwent neurological examination, two patients underwent muscle...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
