182 related articles for article (PubMed ID: 25293719)
1. A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
Oláhová M; Haack TB; Alston CL; Houghton JA; He L; Morris AA; Brown GK; McFarland R; Chrzanowska-Lightowlers ZM; Lightowlers RN; Prokisch H; Taylor RW
Eur J Hum Genet; 2015 Jul; 23(7):935-9. PubMed ID: 25293719
[TBL] [Abstract][Full Text] [Related]
2. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Lim SC; Smith KR; Stroud DA; Compton AG; Tucker EJ; Dasvarma A; Gandolfo LC; Marum JE; McKenzie M; Peters HL; Mowat D; Procopis PG; Wilcken B; Christodoulou J; Brown GK; Ryan MT; Bahlo M; Thorburn DR
Am J Hum Genet; 2014 Feb; 94(2):209-22. PubMed ID: 24462369
[TBL] [Abstract][Full Text] [Related]
3. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Oláhová M; Hardy SA; Hall J; Yarham JW; Haack TB; Wilson WC; Alston CL; He L; Aznauryan E; Brown RM; Brown GK; Morris AA; Mundy H; Broomfield A; Barbosa IA; Simpson MA; Deshpande C; Moeslinger D; Koch J; Stettner GM; Bonnen PE; Prokisch H; Lightowlers RN; McFarland R; Chrzanowska-Lightowlers ZM; Taylor RW
Brain; 2015 Dec; 138(Pt 12):3503-19. PubMed ID: 26510951
[TBL] [Abstract][Full Text] [Related]
4. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Wintjes LTM; Kava M; van den Brandt FA; van den Brand MAM; Lapina O; Bliksrud YT; Kulseth MA; Amundsen SS; Selberg TR; Ybema-Antoine M; Tutakhel OAZ; Greed L; Thorburn DR; Tangeraas T; Balasubramaniam S; Rodenburg RJT
Hum Mutat; 2021 Feb; 42(2):135-141. PubMed ID: 33169484
[TBL] [Abstract][Full Text] [Related]
5. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
Uusimaa J; Jungbluth H; Fratter C; Crisponi G; Feng L; Zeviani M; Hughes I; Treacy EP; Birks J; Brown GK; Sewry CA; McDermott M; Muntoni F; Poulton J
J Med Genet; 2011 Oct; 48(10):660-668. PubMed ID: 21931168
[TBL] [Abstract][Full Text] [Related]
6. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
Leslie N; Wang X; Peng Y; Valencia CA; Khuchua Z; Hata J; Witte D; Huang T; Bove KE
Hum Pathol; 2016 Mar; 49():27-32. PubMed ID: 26826406
[TBL] [Abstract][Full Text] [Related]
7. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
Debray FG; Morin C; Janvier A; Villeneuve J; Maranda B; Laframboise R; Lacroix J; Decarie JC; Robitaille Y; Lambert M; Robinson BH; Mitchell GA
J Med Genet; 2011 Mar; 48(3):183-9. PubMed ID: 21266382
[TBL] [Abstract][Full Text] [Related]
8. The Lebanese Allele in the
Mansour H; Sabbagh S; Bizzari S; El-Hayek S; Chouery E; Gambarini A; Gencik M; Mégarbané A
J Pediatr Genet; 2019 Sep; 8(3):172-178. PubMed ID: 31406627
[TBL] [Abstract][Full Text] [Related]
9. Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome.
Kotecha S; Kairamkonda V
BMJ Case Rep; 2019 Jul; 12(7):. PubMed ID: 31308188
[TBL] [Abstract][Full Text] [Related]
10. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
Miyake N; Yano S; Sakai C; Hatakeyama H; Matsushima Y; Shiina M; Watanabe Y; Bartley J; Abdenur JE; Wang RY; Chang R; Tsurusaki Y; Doi H; Nakashima M; Saitsu H; Ogata K; Goto Y; Matsumoto N
Hum Mutat; 2013 Mar; 34(3):446-52. PubMed ID: 23281071
[TBL] [Abstract][Full Text] [Related]
11. Cytochrome c oxidase deficiency.
Shoubridge EA
Am J Med Genet; 2001; 106(1):46-52. PubMed ID: 11579424
[TBL] [Abstract][Full Text] [Related]
12. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Szklarczyk R; Wanschers BF; Nijtmans LG; Rodenburg RJ; Zschocke J; Dikow N; van den Brand MA; Hendriks-Franssen MG; Gilissen C; Veltman JA; Nooteboom M; Koopman WJ; Willems PH; Smeitink JA; Huynen MA; van den Heuvel LP
Hum Mol Genet; 2013 Feb; 22(4):656-67. PubMed ID: 23125284
[TBL] [Abstract][Full Text] [Related]
13. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E; Berardinelli A; Valente L; Tiranti V; Zeviani M
J Med Genet; 2007 Mar; 44(3):173-80. PubMed ID: 17056637
[TBL] [Abstract][Full Text] [Related]
14. Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II.
Wong LJ; Dai P; Tan D; Lipson M; Grix A; Sifry-Platt M; Gropman A; Chen TJ
Am J Med Genet; 2001 Jul; 102(1):95-9. PubMed ID: 11471180
[TBL] [Abstract][Full Text] [Related]
15. MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Baertling F; Haack TB; Rodenburg RJ; Schaper J; Seibt A; Strom TM; Meitinger T; Mayatepek E; Hadzik B; Selcan G; Prokisch H; Distelmaier F
Neurogenetics; 2015 Jul; 16(3):237-40. PubMed ID: 25663021
[TBL] [Abstract][Full Text] [Related]
16. Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.
Sambuughin N; Liu X; Bijarnia S; Wallace T; Verma IC; Hamilton S; Muldoon S; Tallon LJ; Wang S
J Hum Genet; 2013 Apr; 58(4):226-8. PubMed ID: 23364397
[TBL] [Abstract][Full Text] [Related]
17. Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.
Coenen MJ; Smeitink JA; Pots JM; van Kaauwen E; Trijbels FJ; Hol FA; van den Heuvel LP
J Child Neurol; 2006 Jun; 21(6):508-11. PubMed ID: 16948936
[TBL] [Abstract][Full Text] [Related]
18. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Papadopoulou LC; Sue CM; Davidson MM; Tanji K; Nishino I; Sadlock JE; Krishna S; Walker W; Selby J; Glerum DM; Coster RV; Lyon G; Scalais E; Lebel R; Kaplan P; Shanske S; De Vivo DC; Bonilla E; Hirano M; DiMauro S; Schon EA
Nat Genet; 1999 Nov; 23(3):333-7. PubMed ID: 10545952
[TBL] [Abstract][Full Text] [Related]
19. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.
Ostergaard E; Christensen E; Kristensen E; Mogensen B; Duno M; Shoubridge EA; Wibrand F
Am J Hum Genet; 2007 Aug; 81(2):383-7. PubMed ID: 17668387
[TBL] [Abstract][Full Text] [Related]
20. Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.
Knuf M; Faber J; Huth RG; Freisinger P; Zepp F; Kampmann C
Acta Paediatr; 2007 Jan; 96(1):130-2. PubMed ID: 17187620
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
