Combined oxidative phosphorylation deficiency

[1]. A Saada, et al. Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. J Med Genet. 2007 Dec;44(12):784-6. [Content Brief]

[2]. Abdulraheem Almalki, et al. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Biochim Biophys Acta. 2014 Jan;1842(1):56-64. [Content Brief]

[3]. Avraham Zeharia, et al. Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. Eur J Hum Genet. 2016 Dec;24(12):1778-1782. [Content Brief]

[4]. Bryn D Webb, et al. Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. Hum Mutat. 2015 Jun;36(6):587-92. [Content Brief]

[5]. Chaya Miller, et al. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol. 2004 Nov;56(5):734-8. [Content Brief]

[6]. Christopher A Powell, et al. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. Am J Hum Genet. 2015 Aug 6;97(2):319-28. [Content Brief]

[7]. Christopher J Carroll, et al. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. J Med Genet. 2013 Mar;50(3):151-9. [Content Brief]

[8]. Curtis R Coughlin 2nd, et al. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet. 2015 Aug;52(8):532-40. [Content Brief]

[9]. Daniel S Lieber, et al. Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013 May 7;80(19):1762-70. [Content Brief]

[10]. Daniele Ghezzi, et al. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet. 2010 Apr 9;86(4):639-49. [Content Brief]

[11]. Daria Diodato, et al. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat. 2014 Aug;35(8):983-9. [Content Brief]

[12]. Eliska Holzerova, et al. Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. Brain. 2016 Feb;139(Pt 2):346-54. [Content Brief]

[13]. Enrico Bugiardini, et al. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Hum Mol Genet. 2019 Aug 15;28(16):2711-2719. [Content Brief]

[14]. Eva Lausberg, et al. C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. J Clin Invest. 2021 Jun 15;131(12):e143078. [Content Brief]

[15]. Gordon J Hildick-Smith, et al. Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am J Hum Genet. 2013 Nov 7;93(5):906-14. [Content Brief]

[16]. Hana Antonicka, et al. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet. 2010 Jul 9;87(1):115-22. [Content Brief]

[17]. Irit Hochberg, et al. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. [Content Brief]

[18]. Jan A M Smeitink, et al. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet. 2006 Nov;79(5):869-77. [Content Brief]

[19]. John P Kemp, et al. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain. 2011 Jan;134(Pt 1):183-95. [Content Brief]

[20]. Kalliopi Sofou, et al. Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. Mol Genet Genomic Med. 2015 Jan;3(1):59-68. [Content Brief]

[21]. Louise Galmiche, et al. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Hum Mutat. 2011 Nov;32(11):1225-31. [Content Brief]

[22]. Lucia Valente, et al. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet. 2007 Jan;80(1):44-58. [Content Brief]

[23]. Marisa W Friederich, et al. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018 Oct 3;9(1):4065. [Content Brief]

[24]. Marjan E Steenweg, et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012 May;135(Pt 5):1387-94. [Content Brief]

[25]. Metodi D Metodiev, et al. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. Am J Hum Genet. 2016 May 5;98(5):993-1000. [Content Brief]

[26]. Mohammad K Eldomery, et al. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 Nov 1;8(1):106. [Content Brief]

[27]. Monika Oláhová, et al. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 Feb 18;12(1):1135. [Content Brief]

[28]. Nicole J Lake, et al. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017 Aug 3;101(2):239-254. [Content Brief]

[29]. Nurun Nahar Borna, et al. Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. Neurogenetics. 2019 Mar;20(1):9-25. [Content Brief]

[30]. René G Feichtinger, et al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017 Oct 5;101(4):525-538. [Content Brief]

[31]. Robert Kopajtich, et al. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet. 2014 Dec 4;95(6):708-20. [Content Brief]

[32]. Robert W Taylor, et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014 Jul 2;312(1):68-77. [Content Brief]

[33]. Sali M K Farhan, et al. Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency. Mol Genet Genomic Med. 2014 Jan;2(1):73-80. [Content Brief]

[34]. Sze Chern Lim, et al. Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Hum Mol Genet. 2013 Nov 15;22(22):4460-73. [Content Brief]

[35]. Tobias B Haack, et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2013 Aug 8;93(2):211-23. [Content Brief]

[36]. Vanessa Vedrenne, et al. Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. Am J Hum Genet. 2012 Nov 2;91(5):912-8. [Content Brief]

[37]. Vivienne C M Neeve, et al. Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. Mitochondrion. 2013 Nov;13(6):743-8. [Content Brief]

[38]. Yoshihito Kishita, et al. Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26. Am J Hum Genet. 2015 Nov 5;97(5):761-8. [Content Brief]