Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy
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DOI: 10.1002/humu.24445
Abstract: 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… read more here.
Keywords: charcot marie; morc2 gene; motor neuropathy; marie tooth ... See more keywords