Article
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.
Human mutation - 1 Dec 2022
Jacquier Arnaud, Ribault Shams, Mendes Michel, Lacoste Nicolas, Risson Valérie, Carras Julien, Latour Philippe, Nadaj-Pakleza Aleksandra, Stojkovic Tanya, Schaeffer Laurent
Abstract excerpt
MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of disorders affecting the peripheral nervous system such as Charcot-Marie-Tooth (CMT2Z), spinal muscular atrophy-like with or without cerebellar involvement, and a developmental syndrome associated with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.