Article

Population nuclear mitochondrial disease risk estimated from nuclear disease gene variants in a healthy older cohort

2026-05-18

Abstract excerpt

Mitochondrial diseases (MDs) are genetically and phenotypically diverse and can be difficult to diagnose. Prevalence estimates derive largely from diagnosed cases and may underestimate population MD risk. Population-based studies are limited in scope and number but indicate MD variants are common. As genomic sequencing advances have made comprehensive population-based evaluation feasible, we sought to evaluate nuc...

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Literature Corpus work: 5b11a2ea-769b-5b45-a114-cbcdc38164bd
DOI: 10.64898/2026.05.14.26353160

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