Expanding the phenotypic variability of <i>MORC2</i> gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy-Reference-Cited by-同舟云学术

Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

Published:2022-08-18 Issue:12 Volume:43 Page:1898-1908
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Jacquier Arnaud¹²,Ribault Shams¹³,Mendes Michel⁴,Lacoste Nicolas¹,Risson Valérie¹,Carras Julien¹²,Latour Philippe¹⁵,Nadaj‐Pakleza Aleksandra⁶,Stojkovic Tanya⁷,Schaeffer Laurent¹²^ORCID

Affiliation:

1. PGNM, Institut NeuroMyoGène Université Lyon1—CNRS UMR5261—INSERM U1315 Lyon France

2. Centre de Biotechnologie Cellulaire, CBC Biotec CHU de Lyon—HCL groupement Est Bron France

3. Service de Médecine Physique et de Réadaptation Hôpital Henry Gabrielle, Hospices Civils de Lyon Saint‐Genis‐Laval France

4. Service de Neurologie Centro Hospitalar Trás‐os‐Montes e Alto Douro Vila Real Portugal

5. Unité fonctionnelle de neurogénétique moléculaire CHU de Lyon—HCL groupement Est Bron France

6. Centre de Référence des maladies Neuromusculaires Nord/Est/Ile‐de‐France, Service de Neurologie Hôpitaux Universitaires de Strasbourg Strasbourg France

7. Institut de Myologie Hôpital Pitié‐Salpêtrière Paris France

Funder

French Muscular Dystrophy Association

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24445

Reference27 articles.

1. MORC2mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

2. Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan