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Article

External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation.

Journal of the neurological sciences - 15 May 2002

Hansrote Sun, Croul Sidney, Selak Mary, Kalman Bernadette, Schwartzman Robert J

Abstract excerpt

BACKGROUND: Chronic progressive external ophthalmoplegia (CPEO) may be related to primary nuclear DNA or mitochondrial (mt)DNA mutations. The A3243G mtDNA point mutation most frequently causes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, but also has been associated with other phenotypes including CPEO, migraine, seizure, diabetes, and sensorineural hearing loss. CASE...

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Identifiers

PMID: 11997068
DOI: 10.1016/s0022-510x(02)00048-5

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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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