Article
Phenotype variability and histopathological findings in patients with a novel DNM2 mutation.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Feb 2018
Chen Shuyun, Huang Ping, Qiu Yusen, Zhou Qian, Li Xiaobing, Zhu Min, Hong Daojun
Abstract excerpt
Mutations of Dynamin 2 (DNM2) are responsible for several forms of neuromuscular disorder such as centronuclear myopathy, Charcot-Marie-Tooth disease (CMT) dominant intermediate type B, CMT 2M, and lethal congenital contracture syndrome 5. We describe a young man manifesting as length-dependent sensorimotor neuropathy with hypertrophic cardiomyopathy, but his mother only had very mild symptoms of peripheral...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.