DaRe JT, Vasta V, Penn J, Tran NT, Hahn SH. Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. BMC Med Genet. 2013;14:118.
Article
CAS
PubMed
PubMed Central
Google Scholar
Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH. Next generation sequence analysis for mitochondrial disorders. Genome Med. 2009;110:100.
Article
Google Scholar
Koene S, Smeitink J. Mitochondrial medicine. J Inherit Metab Dis. 2011;342:247–8.
Article
Google Scholar
Shamseldin HE, Alshammari M, Al-Sheddi T, Salih MA, Alkhalidi H, Kentab A, Repetto GM, Hashem M, Alkuraya FS. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet. 2012;494:234–41.
Article
Google Scholar
Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012;4118:118ra10.
Koene S, Rodenburg RJ, van der Knaap MS, Willemsen MA, Sperl W, Laugel V, Ostergaard E, Tarnopolsky M, Martin MA, Nesbitt V, Fletcher J, Edvardson S, Procaccio V, Slama A, van den Heuvel LP, Smeitink JA. Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. J Inherit Metab Dis. 2012;355:737–47.
Article
Google Scholar
Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014;3121:68–77.
Article
Google Scholar
Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y. A Comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PLoS Genet. 2016;121:e1005679.
Article
Google Scholar
Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR. A post hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat. 2013;3412:1721–6.
Article
Google Scholar
Wortmann SB, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ. Whole exome sequencing of suspected mitochondrial patients in clinical practice. J Inherit Metab Dis. 2015;383:437–43.
Article
Google Scholar
Legati A, Reyes A, Nasca A, Invernizzi F, Lamantea E, Tiranti V, Garavaglia B, Lamperti C, Ardissone A, Moroni I, Robinson A, Ghezzi D, Zeviani M. New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies. Biochim Biophys Acta. 2016;13:728.
Google Scholar
Garcia-Cazorla A, De Lonlay P, Nassogne MC, Rustin P, Touati G, Saudubray JM. Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients. Pediatrics. 2005;1165:1170–7.
Article
Google Scholar
Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J. Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. J Inherit Metab Dis. 2012;355:749–59.
Article
Google Scholar
Pronicka E, Piekutowska-Abramczuk D, Szymanska-Debinska T, Bielecka L, Kowalski P, Luczak S, Karkucinska-Wieckowska A, Migdal M, Kubalska J, Zimowski J, Jamroz E, Wierzba J, Sykut-Cegielska J, Pronicki M, Zaremba J, Krajewska-Walasek M. The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation. Mitochondrion. 2013;136:810–6.
Article
Google Scholar
Pronicka E, Weglewska-Jurkiewicz A, Taybert J, Pronicki M, Szymanska-Debinska T, Karkucinska-Wieckowska A, Jakobkiewicz-Banecka J, Kowalski P, Piekutowska-Abramczuk D, Pajdowska M, Socha P, Sykut-Cegielska J, Wegrzyn G. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure. J Appl Genet. 2011;521:61–6.
Article
Google Scholar
Pajdowska M, Gradowska W, Piekutowska-Abramczuk D, Baczyńska A, Iwanicka-Pronicka K, Sykut-Cegielska J. Urinary organic acid analysis by gas chromatography mass spectrometry (GC-MS) in the detection of mitochondrial disorders. Standardy Med Pediatria. 2012;94:552–61.
Google Scholar
Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, Smeitink JA. Mitochondrial disease criteria: diagnostic applications in children. Neurology. 2006;6710:1823–6.
Article
Google Scholar
Ploski R, Pollak A, Muller S, Franaszczyk M, Michalak E, Kosinska J, Stawinski P, Spiewak M, Seggewiss H, Bilinska ZT. Does p. Q247X in TRIM63 cause human hypertrophic cardiomyopathy? Circ Res. 2014;1142:e2–5.
Article
Google Scholar
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;209:1297–303.
Article
Google Scholar
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;435:491–8.
Article
Google Scholar
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;3816:e164.
Article
Google Scholar
Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP. Integrative genomics viewer. Nat Biotechnol. 2011;291:24–6.
Article
Google Scholar
Ciara E, Rokicki D, Halat P, Karkucinska-Wieckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymanska-Debinska T, Pronicki M, Pajdowska M, Dudzinska M, Gizewska M, Krajewska-Walasek M, Ksiazyk J, Sperl W, Ploski R, Pronicka E. Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. Mol Genet Metab Rep. 2016;7:70–6.
Article
CAS
PubMed
PubMed Central
Google Scholar
Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis. 2013;366:923–8.
Article
Google Scholar
Wortmann SB, Zietkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lucke T, Ounap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015;962:245–57.
Article
Google Scholar
Sofou K, Kollberg G, Holmstrom M, Davila M, Darin N, Gustafsson CM, Holme E, Oldfors A, Tulinius M, Asin-Cayuela J. 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 Genom Med. 2015;31:59–68.
Article
Google Scholar
Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimaki T, Stam AH, Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E, Schurks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Farkkila M, Artto V, Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller CM, Zielman R, Heath AC, Madden PA, Montgomery GW, Martin NG, Borck G, Gobel H, Heinze A, Heinze-Kuhn K, Williams FM, Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A, Amin N, Hottenga JJ, Vink JM, Heikkila K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A, Eriksson JG, Traynor BJ, Trabzuni D, Rossin E, Lage K, Jacobs SB, Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C, Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AM, Dichgans M, Wessman M, Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman DI, Palotie A. North American Brain Expression C, Consortium UKBE, International Headache Genetics C, Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nat Genet. 2013;458:912–7.
Article
Google Scholar
Spiegel R, Shaag A, Shalev S, Elpeleg O. Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy. Neurogenetics. 2016. doi:10.1007/s10048-016-0483-3.
Heide H, Bleier L, Steger M, Ackermann J, Drose S, Schwamb B, Zornig M, Reichert AS, Koch I, Wittig I, Brandt U. Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex. Cell Metab. 2012;164:538–49.
Article
Google Scholar
Andrews B, Carroll J, Ding S, Fearnley IM, Walker JE. Assembly factors for the membrane arm of human complex I. Proc Natl Acad Sci USA. 2013;11047:18934–9.
Article
Google Scholar
Emahazion T, Brookes AJ. Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping. Cytogenet Cell Genet. 1998;821–2:114.
Article
Google Scholar
Wong LJ. Next generation molecular diagnosis of mitochondrial disorders. Mitochondrion. 2013;134:379–87.
Article
Google Scholar
Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E. Two new mutations in the MTATP6 gene associated with Leigh syndrome. Neuropediatrics. 2005;365:314–8.
Article
Google Scholar
Castagna AE, Addis J, McInnes RR, Clarke JT, Ashby P, Blaser S, Robinson BH. Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. Am J Med Genet A. 2007;143A8:808–16.
Article
Google Scholar
Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Rose M, Palace J, Crowe C, Longman C, Lunn MP, Rahman S, Reilly MM, Hanna MG. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Neurology. 2012;7911:1145–54.
Article
Google Scholar
Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S. Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. Am J Hum Genet. 2000;666:1900–4.
Article
Google Scholar
Blakely EL, Rennie KJ, Jones L, Elstner M, Chrzanowska-Lightowlers ZM, White CB, Shield JP, Pilz DT, Turnbull DM, Poulton J, Taylor RW. Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. Pediatr Res. 2006;593:440–4.
Article
Google Scholar
Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M, Tiranti V. Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta. 2009;17875:491–501.
Article
Google Scholar
Shanske S, Coku J, Lu J, Ganesh J, Krishna S, Tanji K, Bonilla E, Naini AB, Hirano M, DiMauro S. The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. Arch Neurol. 2008;653:368–72.
Google Scholar
Zhadanov SI, Grechanina EY, Grechanina YB, Gusar VA, Fedoseeva NP, Lebon S, Munnich A, Schurr TG. Fatal manifestation of a de novo ND5 mutation: insights into the pathogenetic mechanisms of mtDNA ND5 gene defects. Mitochondrion. 2007;74:260–6.
Article
Google Scholar
Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. Eur J Hum Genet. 2011;197:769–75.
Article
Google Scholar
Taylor RW, Morris AA, Hutchinson M, Turnbull DM. Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur J Hum Genet. 2002;102:141–4.
Article
Google Scholar
Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nothen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, AbouJamra R. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013;924:575–83.
Article
Google Scholar
Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Ploski R, Krajewska-Walasek M, Pronicka E. Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis-The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. Eur J Paediatr Neurol. 2016;203:462–73.
Article
Google Scholar
Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet. 2010;4212:1131–4.
Article
Google Scholar
Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den Heuvel L, Smeitink J, Vogel RO. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab. 2010;123:283–94.
Article
Google Scholar
Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, Van berkel CG, Bley A, Diogo L, Grillo E, Te WaterNaude J, Strom TM, Bertini E, Prokisch H, Van derknaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations. Brain. 2012;135(pt5):1387–94.
Article
PubMed
Google Scholar
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grunewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Baric I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012;447:797–802.
Article
Google Scholar
Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Haberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, Van derknaap MS. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain. 2013;136(5):1534–43.
Article
PubMed
Google Scholar
Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005;771:16–26.
Article
Google Scholar
Tucker EJ, Hershman SG, Kohrer C, Belcher-Timme CA, Patel J, Goldberger OA, Christodoulou J, Silberstein JM, McKenzie M, Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, Thorburn DR, Mootha VK. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metab. 2011;143:428–34.
Article
Google Scholar
Wibom R, Lasorsa FM, Tohonen V, Barbaro M, Sterky FH, Kucinski T, Naess K, Jonsson M, Pierri CL, Palmieri F, Wedell A. AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med. 2009;3615:489–95.
Article
Google Scholar
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat. 2014;358:983–9.
Article
Google Scholar
Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D’Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet. 2010;864:639–49.
Article
Google Scholar
Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet. 2007;814:857–62.
Article
Google Scholar
Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet. 2007;396:776–80.
Article
Google Scholar
Ohba C, Okamoto N, Murakami Y, Suzuki Y, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, Matsumoto N, Saitsu H. PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. Neurogenetics. 2014;152:85–92.
Article
Google Scholar
Lagier-Tourenne C, Tazir M, Lopez LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet. 2008;823:661–72.
Article
Google Scholar
Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rotig A. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet. 2008;823:623–30.
Article
Google Scholar
Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015;962:258–65.
Article
Google Scholar
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013;933:482–95.
Article
Google Scholar
Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013;933:471–81.
Article
Google Scholar
Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest. 2004;1146:837–45.
Article
Google Scholar
Spiegel R, Shaag A, Mandel H, Reich D, Penyakov M, Hujeirat Y, Saada A, Elpeleg O, Shalev SA. Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. Eur J Hum Genet. 2009;179:1200–3.
Article
Google Scholar
Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, van den Heuvel L. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet. 1999;213:260–1.
Google Scholar
Grad LI, Lemire BD. Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis. Hum Mol Genet. 2004;133:303–14.
Google Scholar
Lebon S, Rodriguez D, Bridoux D, Zerrad A, Rotig A, Munnich A, Legrand A, Slama A. A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome. Mol Genet Metab. 2007;904:379–82.
Article
Google Scholar
Davis CW, Hawkins BJ, Ramasamy S, Irrinki KM, Cameron BA, Islam K, Daswani VP, Doonan PJ, Manevich Y, Madesh M. Nitration of the mitochondrial complex I subunit NDUFB8 elicits RIP1- and RIP3-mediated necrosis. Free Radic Biol Med. 2010;482:306–17.
Article
Google Scholar
Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Tylek-Lemanska D, Sykut-Cegielska J, Szymanska-Dembinska T, Bielecka L, Krajewska-Walasek M, Pronicka E. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. Eur J Paediatr Neurol. 2009;132:146–53.
Article
Google Scholar