Article

Quantifying phenotype and genotype distributions in single muscle fibres from patients carrying the pathogenic mtDNA variant m.3243A>G

2022-04-05

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Pathogenic mitochondrial (mt)DNA variants cause neuromuscular disease with highly variable severity and phenotypic presentation, the reason for which is poorly understood. Cells are thought to tolerate the presence of pathogenic mtDNA variants up to a threshold proportion with little or no functional consequence, developing significant respiratory complex defects above this th...

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Literature Corpus work: d203a40d-29d2-598a-bd8c-398f36948198
DOI: 10.1101/2022.04.04.22272484

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