ArticleAnnals of clinical and translational neurology2021
Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.
Article in Annals of clinical and translational neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Unexpected Conduction Blocks inClinical case reports · 2026Article
- Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.Brain : a journal of neurology · 2025Article
- Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.Journal of neurology, neurosurgery, and psychiatry · 2024Review
- A novel mutation in SORD gene associated with distal hereditary motor neuropathies.BMC medical genomics · 2024Article
- Amyotrophic Lateral Sclerosis: Advances and Prospects.Journal of clinical medicine · 2023Article
- Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency.JCI insight · 2023Article
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
- Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.Brain communications · 2023Article
- Skeletal muscle involvement in biallelicActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023Review
- No Association between theJournal of clinical medicine · 2022Article
- [Genetic distribution in Chinese patients with hereditary peripheral neuropathy].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2022Article
- Neurological update: hereditary neuropathies.Journal of neurology · 2022Review
- Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.BMC medical genomics · 2022Article
- Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.Scientific reports · 2021Article
- Clinical and Genetic Features of Biallelic Mutations inFrontiers in neurology · 2021Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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. Interestingly, the two patients homozygous for the c.757delG mutation exhibited positive responses for pinprick test. In conclusion, we confirmed SORD mutations as causative for CMT and further expanded the mutational and phenotypic spectrum of SORD-related CMT.
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