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Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

7 Feb 2018

Abstract excerpt

Abstract Objective The pathogenic mitochondrial DNA m.3243A>G mutation is associated with a wide range of clinical features, making disease prognosis extremely difficult to predict. We aimed to understand the cause of this heterogeneity. Methods We examined the phenotypic profile of 238 adult m.3243A>G carriers (patients and asymptomatic carriers) from the UK MRC Mitochondrial Disease Patient Cohort using the...

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PMID: 29560378
DOI: 10.1002/acn3.532

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