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Article

Novel POLG splice site mutation and optic atrophy.

Archives of neurology - 1 Jun 2011

Milone Margherita, Wang Jing, Liewluck Teerin, Chen Li-Chieh, Leavitt Jacqueline A, Wong Lee-Jun

Abstract excerpt

OBJECTIVE: To investigate the molecular etiology of 2 unrelated patients with a multisystem mitochondrial disorder accompanied by optic atrophy in one of them. DESIGN: Clinical examination and neurophysiological, radiological, morphological, and molecular analyses. SETTING: Tertiary care neuromuscular clinic and molecular genetics laboratory. PATIENTS: A 65-year-old man (patient 1) with dyschromatopsia and vision...

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Source

Identifiers

PMID: 21670405
DOI: 10.1001/archneurol.2011.124

Genes

POLG
OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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