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Article

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) in a Donegal kindred--clinical features and molecular genetic analysis.

Irish medical journal - 1 Jan 2000

McEntagart M, Droogan O, Burke M, Brett F, Murphy S, Farrell M

Abstract excerpt

A 19 year old female with a background history of migraine, sensorineural deafness and recent personality change developed a parieto-occipital cerebral infarct. Investigations revealed altered lactate to pyruvate ratios, ragged red fibres in muscle and an A-G point mutation at position 3243 in mitochondrial DNA. Subsequent clinical and molecular genetic analysis of 14 family members in three generations...

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PMID: 9267093

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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