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Article

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.

Prenatal diagnosis - 1 Jul 2001

Amiel J, Gigarel N, Benacki A, Benit P, Valnot I, Parfait B, Von Kleist-Retzow J C, Raclin V, Hadj-Rabia S, Dumez Y, Rustin P, Bonnefont J P, Munnich A, Rötig A

Abstract excerpt

Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance...

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Source

Identifiers

PMID: 11494300
DOI: 10.1002/pd.126

Genes

NDUFV1
SCO1
SURF1

Provenance

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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