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Article

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Human molecular genetics - 15 Jul 2015

Angebault Claire, Charif Majida, Guegen Naig, Piro-Megy Camille, Mousson de Camaret Benedicte, Procaccio Vincent, Guichet Pierre-Olivier, Hebrard Maxime, Manes Gael, Leboucq Nicolas, Rivier François, Hamel Christian P, Lenaers Guy, Roubertie Agathe

Abstract excerpt

Mitochondrial complex I (CI) deficiencies are causing debilitating neurological diseases, among which, the Leber Hereditary Optic Neuropathy and Leigh Syndrome are the most frequent. Here, we describe the first germinal pathogenic mutation in the NDUFA13/GRIM19 gene encoding a CI subunit, in two...

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Source

Identifiers

PMID: 25901006
DOI: 10.1093/hmg/ddv133

Genes

NDUFA13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25901006-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.PMID 25901006Read ↗

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