Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.
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ABSTRACT:
SUBMITTER: Yuan RY
PROVIDER: S-EPMC7818235 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
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Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.
Yuan Ru-Ying RY Ye Zi-Ling ZL Zhang Xiao-Rong XR Xu Liu-Qing LQ He Jin J
Annals of clinical and translational neurology 20201212 1
Biallelic mutations in the sorbitol dehydrogenase (SORD) encoding gene were recently identified as a common genetic cause in autosomal-recessive CMT patients. Here, we investigated the clinical, genetic, and electrophysiological characteristics of three CMT patients with biallelic SORD mutations from a Chinese cohort. Two patients harbored c.757delG (p.A253Qfs*27) homozygous mutations, and one patient carried both c.757delG (p.A253Qfs*27) and c.625C>T (p.R209X) compound heterozygous mutations. I ...[more]
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