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Article

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.

Clinica chimica acta; international journal of clinical chemistry - 25 Aug 2015

Lam Ching-Wan, Law Chun-Yiu, Siu Wai-Kwan, Fung Cheuk-Wing, Yau Man-Mut, Huen Kwai-Fun, Lee Hencher Han-Chih, Mak Chloe Miu

Abstract excerpt

BACKGROUND: Clinical diagnosis of POLG-related disorders can be challenging because the phenotypic spectrums are heterogeneous which can mimic different types of mitochondrial disorders. CASE: We report a case of POLG-related disorder in an 18y Chinese girl who had been diagnosed as MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) for the past 8y. She first...

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Source

Identifiers

PMID: 26169155
DOI: 10.1016/j.cca.2015.06.028

Genes

POLG

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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