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Article

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

American journal of medical genetics - 1 Jan 2001

Thorburn D R, Dahl H H

Abstract excerpt

Most patients with mitochondrial disorders are diagnosed by finding a respiratory chain enzyme defect or a mutation in the mitochondrial DNA (mtDNA). The provision of accurate genetic counseling and reproductive options to these families is complicated by the unique genetic features of mtDNA that distinguish it from Mendelian genetics. These include maternal inheritance, heteroplasmy, the threshold effect, the...

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Identifiers

PMID: 11579429
DOI: 10.1002/ajmg.1380

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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