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Mitochondrial disease caused by the m.3243A>G mutation

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke - 28 Jun 2022

Varhaug Kristin N, Hikmat Omar, Bindoff Laurence A

Abstract excerpt

Mitochondrial disease is among the most commonly occurring metabolic disorders and is relevant for many medical specialties. This clinical review article discusses one of the most common mutations causing mitochondrial disease, namely m.3243A>G. The mutation can lead to diabetes mellitus, hearing loss, cardiac and muscle involvement, encephalopathy and epilepsy, gastric and intestinal problems and visual...

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PMID: 35763848
DOI: 10.4045/tidsskr.21.0729

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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