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Article

POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria.

Gene - 10 May 2012

Bekheirnia Mir Reza, Zhang Wei, Eble Tanya, Willis Alecia, Shaibani Aziz, Wong Lee-Jun C, Scaglia Fernando, Dhar Shweta U

Abstract excerpt

Mutations in POLG account for one of the most frequent nuclear encoded causes of mitochondrial disorders to date. Individuals harboring POLG mutations exhibit fairly heterogeneous clinical presentations leading to increasing difficulties in classifying these patients into defined clinical phenoty...

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Source

Identifiers

PMID: 22405928
DOI: 10.1016/j.gene.2012.02.034

Genes

POLG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22405928-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria.PMID 22405928Read ↗

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