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Article

Adult presentation of a rare mitochondrial tRNA Val gene mutation-an expanding clinical phenotype.

European journal of neurology - 1 Oct 2024

Joyce Eimear, Ali Mohib, Richard Georgia, Kelly Siobhan, Martin Fiachra, Conlon Peter J, Whelehan Anna, Ng Yi Shiau, Lefter Stela

Abstract excerpt

BACKGROUND AND PURPOSE: Late-onset mitochondrial disorders are diagnostically challenging with significant heterogeneity in disease presentation. A case is reported of a 67-year-old gentleman who presented with a 3-month history of seizures, recurrent encephalopathy, ataxia and weight loss, preceded by recent initiation of haemodialysis for end-stage chronic kidney disease. METHODS: Extensive work-up including...

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Identifiers

PMID: 38973423
DOI: 10.1111/ene.16405
PMCID: PMC11414816

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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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