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Article

Nonrandom tissue distribution of mutant mtDNA.

American journal of medical genetics - 27 Aug 1999

Chinnery P F, Zwijnenburg P J, Walker M, Howell N, Taylor R W, Lightowlers R N, Bindoff L, Turnbull D M

Abstract excerpt

Heteroplasmic mitochondrial DNA (mtDNA) defects are an important cause of inherited human disease. On a cellular level, the percentage of mutant mtDNA is the principal factor behind the expression of the genetic defect. Marked variation in the level of mutant mtDNA among tissues is thought to be responsible for the diverse clinical phenotypes associated with the same pathogenic mtDNA mutation. This study was...

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PMID: 10405450

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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