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Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

Sorbitol dehydrogenase gene (SORD) has been identified as a novel causative gene of recessive forms of hereditary neuropathy, including Charcot–Marie–Tooth disease type 2 and distal hereditary motor neuropathy (dHMN). Our findings reveal two novel variants (c.404 A > G and c.908 + 1 G > C) and...

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Bibliografiske detaljer
Udgivet i:NPJ Genom Med
Main Authors: Dong, Hai-Lin, Li, Jia-Qi, Liu, Gong-Lu, Yu, Hao, Wu, Zhi-Ying
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2021
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7782788/
https://ncbi.nlm.nih.gov/pubmed/33397963
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-00165-6
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