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Article

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders.

Journal of medical genetics - 1 Feb 2018

Vachin Pauline, Adda-Herzog Elodie, Chalouhi Gihad, Elie Caroline, Rio Marlène, Rondeau Sophie, Gigarel Nadine, Jabot Hanin Fabienne, Monnot Sophie, Borghese Roxana, Bengoa Joana, Ville Yves, Rotig Agnes, Munnich Arnold, Bonnefont Jean-Paul, Steffann Julie

Abstract excerpt

BACKGROUND: Mitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases commonly results in requests from at-risk couples for prenatal diagnosis (PND), based on determination of the mutant load on a chorionic villous sample (CVS). Such procedures are hampered by the lack of data regarding...

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Identifiers

PMID: 28754700
DOI: 10.1136/jmedgenet-2017-104615

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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