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Mitochondrial disorders. Methods and specimen selection for diagnostic molecular pathology.

Archives of pathology & laboratory medicine - 1 Jun 1996

Kiechle F L, Kaul K L, Farkas D H

Abstract excerpt

Mitochondrial DNA is a circular double-stranded macromolecule. Each strand contains 16 569 base pairs. Mutations in mitochondrial DNA, including base substitutions in tRNA or rRNA genes, deletions, duplications, or base substitutions in genes for protein subunits, lead to specific diseases. The ratio of mutated to normal mitochondrial DNA may vary from tissue to tissue (heteroplasmy) in mitochondrial DNA...

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PMID: 8651866

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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