Case Report: Charcot-marie-tooth disease caused by a de novo MORC2 gene mutation - novel insights into pathogenicity and treatment

Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy involving approximately 80 pathogenic genes. Whole-exome sequencing (WES) and confirmatory Sanger sequencing analysis was applied to identify the disease-causing mutations in a Chinese patient with lower limb weakness. We presen...

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Bibliographic Details

Published in:	Frontiers in Genetics
Main Authors:	Feng Zhu, Chengcheng Gao, Xiangxiang Zhu, Huihua Jiang, Mingchun Huang, Yuanlin Zhou
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-10-01
Subjects:	MORC2 lower limb weakness charcot-marie-tooth disease mecobalamin coenzyme Q10 case report
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1400906/full