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Article

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

American journal of human genetics - 8 Aug 2013

Gaignard Pauline, Menezes Minal, Schiff Manuel, Bayot Aurélien, Rak Malgorzata, Ogier de Baulny Hélène, Su Chen-Hsien, Gilleron Mylene, Lombes Anne, Abida Heni, Tzagoloff Alexander, Riley Lisa, Cooper Sandra T, Mina Kym, Sivadorai Padma, Davis Mark R, Allcock Richard J N, Kresoje Nina, Laing Nigel G, Thorburn David R, Slama Abdelhamid, Christodoulou John, Rustin Pierre

Abstract excerpt

Many individuals with abnormalities of mitochondrial respiratory chain complex III remain genetically undefined. Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recur...

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Identifiers

PMID: 23910460
DOI: 10.1016/j.ajhg.2013.06.015
PMCID: PMC3738829

Genes

CYC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23910460-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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