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Article

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

Journal of neurogenetics - 1 Jun 2024

Arlt Annabelle, Akova-Öztürk Esra, Schirmacher Anja, Schlüter Bernhard, Rust Stephan, Meyer Zu Hörste Gerd, Wiendl Heinz, Wiethoff Sarah

Abstract excerpt

Pathogenic, biallelic variants in SORD were identified in 2020 as a novel cause for autosomal-recessive Charcot-Marie-Tooth disease (CMT) type 2, an inherited neuropathy. SORD codes for the enzyme sorbitol dehydrogenase. Loss of this enzyme's activity leads to an increase of sorbitol in serum. We retrospectively screened 166 patients with axonal neuropathy (predominantly CMT type 2, but including intermediate...

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Identifiers

PMID: 38975976
DOI: 10.1080/01677063.2024.2374898

Genes

SORD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.PMID 38975976Read ↗

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 ↗

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

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

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

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

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

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.Semantic proximity Read ↗

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

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

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

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

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