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Article

The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.

Journal of neuromuscular diseases - 1 Jan 2024

Saunders Charlie, Longman Cheryl, Gorman Grainne, James Kelly, Oliwa Agata, Petty Richard, Snadden Lesley, Farrugia Maria Elena

Abstract excerpt

BACKGROUND: The m.3243A>G variant is the commonest mitochondrial (mt) DNA pathogenic variant and a frequent cause of mitochondrial disease. Individuals present with a variety of clinical manifestations from diabetes to neurological events resembling strokes. Due to this, patients are commonly cared for by a multidisciplinary team. OBJECTIVES: This project aimed to identify patients with confirmed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38108361
DOI: 10.3233/JND-230166
PMCID: PMC10789362

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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