Mitochondrial complex III deficiency

[1]. Bas F J Wanschers, et al. A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability. Hum Mol Genet. 2014 Dec 1;23(23):6356-65. [Content Brief]

[2]. Cristina Dallabona, et al. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Brain. 2016 Mar;139(Pt 3):782-94. [Content Brief]

[3]. Daniele Ghezzi, et al. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet. 2011 Mar;43(3):259-63. [Content Brief]

[4]. Elena J Tucker, et al. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. PLoS Genet. 2013;9(12):e1004034. [Content Brief]

[5]. Mirjana Gusic, et al. Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. Am J Hum Genet. 2020 Jan 2;106(1):102-111. [Content Brief]

[6]. Noriko Miyake, et al. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mutat. 2013 Mar;34(3):446-52. [Content Brief]

[7]. Ortal Barel, et al. Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. Am J Hum Genet. 2008 May;82(5):1211-6. [Content Brief]

[8]. P de Lonlay, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet. 2001 Sep;29(1):57-60. [Content Brief]

[9]. Paule Bénit, et al. Respiratory-chain diseases related to complex III deficiency. Biochim Biophys Acta. 2009 Jan;1793(1):181-5. [Content Brief]

[10]. Pauline Gaignard, et al. Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. Am J Hum Genet. 2013 Aug 8;93(2):384-9. [Content Brief]

[11]. Sandrine Haut, et al. A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum Genet. 2003 Jul;113(2):118-22. [Content Brief]