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

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)...

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Detalles Bibliográficos
Autores principales: Jacquier, Arnaud, Ribault, Shams, Mendes, Michel, Lacoste, Nicolas, Risson, Valérie, Carras, Julien, Latour, Philippe, Nadaj‐Pakleza, Aleksandra, Stojkovic, Tanya, Schaeffer, Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087860/
https://www.ncbi.nlm.nih.gov/pubmed/35904125
http://dx.doi.org/10.1002/humu.24445

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