Ontology highlight
ABSTRACT:
SUBMITTER: Duan X
PROVIDER: S-EPMC5054897 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Duan Xiaohui X Gu Weihong W Hao Ying Y Wang Renbin R Wen Hong H Sun Shaojie S Jiao Jinsong J Fan Dongsheng D
Frontiers in aging neuroscience 20160922
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report phenotypic variability in a four-generation Chinese family with the MPZ mutation Asp121Asn. Genetic testing was performed on nine family members and 200 controls. Clinical, electrophysiological and skeleta ...[more]