Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder characterized by wide clinical, genetic and pathomechanistic heterogeneity. Recently, the gene encoding peripheral myelin protein 2 (PMP2) was identified as a novel cause for CMT neuropathy with three m...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Palaima, Paulius, Chamova, Teodora, Jander, Sebastian, Mitev, Vanyo, Van Broeckhoven, Christine, Tournev, Ivailo, Peeters, Kristien, Jordanova, Albena
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6692960/
https://ncbi.nlm.nih.gov/pubmed/31412900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1162-x
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker