Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant

Abstract excerpt

BACKGROUND: The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a clear understanding of the natural course of disease. To obtain more insight into the disease burden and the progression of disease in carriers of the mDNA 3243 A>G variant, we followed a cohort of 151 carriers from...

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