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Article

Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2021

Lin Yan, Du Jixiang, Wang Wei, Ren Hong, Zhao Dandan, Liu Fuchen, Lin Pengfei, Ji Kunqian, Zhao Yuying, Yan Chuanzhu

Abstract excerpt

BACKGROUND: Mitochondrial disorders are clinically heterogeneous diseases associated with impaired oxidative phosphorylation (OXPHOS) activity. POLG, which encodes the DNA polymerase-γ (Polγ) catalytic subunit, is the most commonly mutated nuclear gene associated with mitochondrial disorders. METHODS: We carried out whole-exome sequencing (WES) to identify the gene associated with progressive external...

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Share to DNA-Directed DNA Polymerase
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Polymerase gamma

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Share to Mutation, Missense

Share to Ophthalmoplegia, Chronic Progressive External

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Identifiers

PMID: 34189666
DOI: 10.1007/s10072-021-05380-2

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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