Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.

Annals of clinical and translational neurology - 1 Jan 2021

Yuan Ru-Ying, Ye Zi-Ling, Zhang Xiao-Rong, Xu Liu-Qing, He Jin

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Charcot-Marie-Tooth Disease
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 33314640
DOI: 10.1002/acn3.51268
PMCID: PMC7818235

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.PMID 33314640Read ↗

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDSemantic proximity Read ↗

A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.Semantic proximity Read ↗

Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.Semantic proximity Read ↗

Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.Semantic proximity Read ↗

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.Semantic proximity Read ↗

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesSemantic proximity Read ↗

Clinical and pathological study of SORD-related distal motor neuropathy caused by novel compound heterozygous mutations in a Chinese patient.Semantic proximity Read ↗

SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.Semantic proximity Read ↗

Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.Semantic proximity Read ↗

Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.Semantic proximity Read ↗

Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene.Semantic proximity Read ↗

A novel mutation in SORD gene associated with distal hereditary motor neuropathies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.