Article

Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

2022-11-18

Abstract excerpt

Maternally inherited mitochondrial diseases are caused by pathogenic mitochondrial (mt)DNA variants. Affecting individuals at any age, they are often multi-systemic and manifest extreme clinical variability. We have limited understanding of the cause of this heterogeneity, which makes disease diagnosis and prognosis exceptionally challenging. This is clearly demonstrated by disease caused by m.3243A>G, the most co...

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Literature Corpus work: e481ddb2-6dfc-5e72-af43-ca06fad60087
DOI: 10.1101/2022.11.18.22282450

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