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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)...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
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 |