A Rare Phenotype of Uncommon Charcot–Marie–Tooth Genotypes Complicated With Inflammation Evaluated by Genetics and Magnetic Resonance Neurography

A Rare Phenotype of Uncommon Charcot–Marie–Tooth Genotypes Complicated With Inflammation Evaluated by Genetics and Magnetic Resonance Neurography

The pathogenesis of Charcot–Marie–Tooth (CMT) disease, an inherited peripheral neuropathy, is associated with more than 60 nuclear genes. We reported a rare phenotype of the uncommon CMT genotype complicated with neuroinflammation, that is, an MPZ mutation, NC_000001.11 (NM_000530.6): c.308G &gt...

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Bibliographic Details
Main Authors: Xiaoyun Su, Xiangquan Kong, Zuneng Lu, Lixia Wang, Chuansheng Zheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Genetics
Subjects:
Charcot–Marie–Tooth
MPZ gene
next-generation sequencing
magnetic resonance neurography
neuroinflammation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.873641/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.873641/full

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