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

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

Scientific reports - 19 Apr 2021

Laššuthová P, Mazanec R, Staněk D, Sedláčková L, Plevová B, Haberlová J, Seeman P

Abstract excerpt

Recently, biallelic variants in the SORD gene were identified as causal for axonal hereditary neuropathy (HN). We ascertained the spectrum and frequency of SORD variants among a large cohort of Czech patients with unknown cause of HN. Exome sequencing data were analysed for SORD (58 patients). The prevalent c.757del variant was tested with fragment analysis (931 patients). Sanger sequencing in additional 70...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Cohort Studies
Share to Czech Republic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Hereditary Sensory and Motor Neuropathy

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 33875678
DOI: 10.1038/s41598-021-86857-0
PMCID: PMC8055917

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

Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.PMID 33875678Read ↗

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

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

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 ↗

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

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

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

Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.Semantic proximity Read ↗

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.Semantic proximity Read ↗

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

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

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