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Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.

Human molecular genetics - 1 Oct 2021

Bernardino Gomes Tiago M, Ng Yi Shiau, Pickett Sarah J, Turnbull Doug M, Vincent Amy E

Abstract excerpt

Mitochondrial DNA (mtDNA) disorders are recognized as one of the most common causes of inherited metabolic disorders. The mitochondrial genome occurs in multiple copies resulting in both homoplasmic and heteroplasmic pathogenic mtDNA variants. A biochemical defect arises when the pathogenic variant level reaches a threshold, which differs between variants. Moreover, variants can segregate, clonally expand, or be...

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Identifiers

PMID: 34169319
DOI: 10.1093/hmg/ddab156
PMCID: PMC8490015

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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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