Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy

Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy

Biallelic mutations in the sorbitol dehydrogenase (SORD) gene have recently been found to be one of the most frequent causes of autosomal recessive axonal Charcot-Marie-Tooth (CMT2) and distal hereditary motor neuropathy (dHMN). This study was performed to explore the frequency of SORD mutations and...

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Bibliographic Details
Main Authors: Xiaoxuan Liu, Ji He, Mubalake Yilihamu, Xiaohui Duan, Dongsheng Fan
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-11-01
Series:Frontiers in Neurology
Subjects:
Charcot-Marie-Tooth disease
phenotype
genotype
genetics
distal hereditary motor neuropathy
SORD
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.733926/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.733926/full

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