Clinical, neurophysiological evaluation and genetic features of axonal Charcot–Marie–Tooth disease in a Chinese family

Clinical, neurophysiological evaluation and genetic features of axonal Charcot–Marie–Tooth disease in a Chinese family

Charcot–Marie–Tooth disease (CMT) is a group of inherited peripheral neuropathies related to variants in the mitochondrial transfer RNA (mt-tRNAval) gene. Here, we report a Chinese family harboring the m.1661A>G variant in the mt-tRNAval gene. Clinical evaluation, neuroelectrodiagnostic testi...

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Bibliographic Details
Main Authors: Li Cao, Jie Yang, Xiaohuan Zhang, Xu Wang, Zhangyuwei Chen, Song Tan, Jiyun Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Neurology
Subjects:
Charcot–Marie–Tooth disease (CMT)
the mitochondrial transfer RNA (mt-tRNAval) gene
the m.1661A>G variant
neuroelectrodiagnostic testing
peripheral neuropathies
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1337065/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1337065/full

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