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The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.

Neurogenetics - 1 Dec 2018

Leal Alejandro, Bogantes-Ledezma Sixto, Ekici Arif B, Uebe Steffen, Thiel Christian T, Sticht Heinrich, Berghoff Martin, Berghoff Corinna, Morera Bernal, Meisterernst Michael, Reis André

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of hereditary peripheral neuropathies. We previously reported a CMT locus on chromosome 19q13.3 segregating with the disease in a large Costa Rican family with axonal neuropathy and autosomal recessive pattern of inheritance (CMT2B2). We proposed a homozygous missense variant in the Mediator complex 25 (MED25) gene as causative of the disease....

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Source

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Identifiers

PMID: 30039206
DOI: 10.1007/s10048-018-0555-7
PMCID: PMC6280876

Genes

MED25
PNKP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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