Genetic defects in the oxidative phosphorylation (OXPHOS) system

References

• Zeviani M, Spinazzola A, Carelli V. Nuclear genes in mitochondrial disorders. Cum Opin. Genet. Dev. 13(3), 262–270 (2003).
   Google Scholar
• Rahman S, Blok RB, Dahl HH et al Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann. Neural. 39(3), 343–351 (1996).
   PubMed Web of Science ®Google Scholar
• Smeitink J, van den Heuvel L, DiMauro S. The genetics and pathology of oxidative phosphorylation. Natum Rev Genet. 2(5), 342–352 (2001).
   Google Scholar
• Loeffen JL, Smeitink JA, Trijbels JM et al Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum. Mutat. 15(2), 123–134 (2000).
   PubMedGoogle Scholar
• DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N. Engl. Merl 348(26), 2656–2668 (2003).
   Google Scholar
• Solano A, Playan A, Lopez-Perez MJ, Montoya J. Genetic diseases of the mitochondrial DNA in humans. Salucl Publica. Mex. 43(2), 151–161 (2001).
   Google Scholar
• Parfait B, de Lonlay P, von Kleist-Retzow JC etal The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur. Pecliatr 158(1), 55–58 (1999).
   Google Scholar
• Ciafaloni E, Santorelli FM, Shanske S et al Maternally inherited Leigh syndrome. Perliatr 122(3), 419–422(1993).
   Google Scholar
• Casademont J, Barrientos A, Cardellach F etal Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. Hum. Mal Genet. 3(11), 1945–1949 (1994).
   PubMedGoogle Scholar
• Scacco S, Petruzzella V, Budde S etal Pathological mutations of the human NDUFS4 gene of the 18 kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex. J: Biol. Chem. 278(45), 44161–44167 (2003).
   Google Scholar
• Van den Heuvel L, Ruitenbeek W, Smeets R eta]. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am.j Hum. Genet. 62(2), 262–268 (1998).
   Google Scholar
• Bourgeron T, Rustin P, Chretien D eta]. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Natum Genet. 11(2), 144–149 (1995).
   PubMed Web of Science ®Google Scholar
• •First report of a nuclear oxidative phosphorylation (OXPHOS) gene mutation in complex 11-deficient Leigh syndrome.
   Google Scholar
• Astuti D, Latif F, Dallol A eta]. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am. J. Hum. Genet. 69 (1), 49–54 (2001). Erratum in: Am.j Hum. Genet. 70(2), 565 (2002).
   Google Scholar
• Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, Type 3. Natum Genet. 26(3), 268–270 (2000).
   Google Scholar
• Baysal BE, Ferrell RE, Willett-Brozick JE et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287(5454), 848–851 (2000).
   PubMed Web of Science ®Google Scholar
• •First report of a nuclear gene mutation in human complex I deficiency. eta]. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287 (5454), 848–851 (2000).
   Google Scholar
• •First report on a nuclear-encoded component of OXPHOS implicated in tumorigenesis.
   Google Scholar
• Andreu AL, Bruno C, Dunne TC eta].
   Google Scholar
• De Coo IF, Renier WO, Ruitenbeek W etal A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann. Neural. 45(1).
   Google Scholar
• Valnot I, Kassis J, Chretien D eta]. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded Hum. Genet. 104(6), 460–466 (1999).
   Google Scholar
• Dumoulin R, Sagnol I, Ferlin T, Bozon D.
   Google Scholar
• Marin-Garcia J, Hu Y, Ananthakrishnan R, complex III deficiency in ischemic cardiomyopathy. Biochem. Mal. Biol. Int. 40(3), 487–495 (1996). 30
   Google Scholar
• Haut S, Brivet M, Touati G eta]. A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycemia and lactic acidosis. Hum. Genet. 113(2), 118–122 (2003).
   Google Scholar
• De Lonlay P, Valnot I, Barrientos A et al A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nattily Genet. 29(1), 57–60 (2001).
   Google Scholar
• Cruciat CM, Hell K, Folsch H, Neupert W Stuart RA. Bcslp, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex. EMI30 18(19), 5226–5233 (1999).
   Google Scholar
• Nobrega FG, Nobrega MP, Tzagoloff A. BCS1, a novel gene required for the expression of functional Rieske iron—sulfur protein in Saccharomyces cerevisiae. EMI30 1. 11(11), 3821–3829 (1992). Visapaa I, Fellman V, Vesa J etal GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am. J. Hum. Genet. 71(4), 863–876 (2002).
   Google Scholar
• Shoubridge EA. Cytochrome c oxidase deficiency. Am.J Merl Genet. 106 (1), 46–52 (2001).
   PubMedGoogle Scholar
• Zeviani M, Corona P, Nijtmans L, Tiranti V. Nuclear gene defects in mitochondrial disorders. Ital. J. Neural Sci. 20(6), 401–408 (1999).
   Google Scholar
• Tiranti V, Jaksch M, Hofmann S etal Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann. Nemo'. 46(2), 161–166 (1999).
   Google Scholar
• Von Kleist-Retzow JC, Yao J, Taanman JW etal Mutations in SURF1 are not specifically associated with Leigh syndrome.
   Google Scholar
• Merl Genet. 38(2), 109–113 (2001). Rahman S, Brown RM, Chong WK, Wilson CJ, Brown GK. A SURF1 gene mutation presenting as isolated leukodystrophy. Ann. Neural. 49(6), 797–800 (2001).
   Google Scholar
• Papadopoulou LC, Sue CM, Davidson MM et al Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in 5CO2, a COX assembly gene. Nature Genet. 23(3), 333–337 (1999).
   Google Scholar
• Valnot I, Osmond S, Gigarel N etal Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am. J. Hum. Genet. 67(5), 1104–1109 (2000).
   Google Scholar
• Sue CM, Karadimas C, Checcarelli N etal Differential features of patients with mutations in two COX assembly genes, SURF-1 and 5CO2. Ann. Neural 47(5), 589–595 (2000).
   Google Scholar
• Antonicka H, Mattman A, Carlson CG eta]. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am. J. Hum. Genet. 72(1), 101–114 (2003).
   Google Scholar
• Valnot I, von Kleist-Retzow JC, Barrientos A etal A mutation in the human heme A: farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum. Mal. Genet. 9(8), 1245–1249 (2000).
   Google Scholar
• Koehler CM, Leuenberger D, Merchant S, Renold A, Junne T, Schatz G. Human deafness dystonia syndrome is a mitochondrial disease. Proc. Natl Acad. Li. USA 96(5), 2141–2146 (1999).
   Google Scholar
• Roesch K, Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum. Mal Genet. 11(5), 477–486 (2002).
   Google Scholar
• Wallace DC, Murdock DG. Mitochondria and dystonia: the movement disorder connection? Proc. Natl Acad. Sci. USA 96(5), 1817–1819 (1999).
   Google Scholar
• Binder J, Hofmann S, Kreisel S etal Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene. Brain 126\(Pt 8), 1814–1820 (2003).
   Google Scholar
• Schapira AH. Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia. Biochim. Biophys. Acta 1410(2), 159–170 (1999).
   Google Scholar
• Alper G, Narayanan V. Friedreich's ataxia. Perliatr. Neural 28(5), 335–341 (2003).
   PubMedGoogle Scholar
• Durr A. Friedreich's ataxia: treatment within reach. Lancet Neural. (6), 370–374 (2002).
   Google Scholar
• Rotig A, Sidi D, Munnich A, Rustin Molecular insights into Friedreich's ataxia and anti-oxidant-based therapies. Trends Mal Merl 8(5), 221–224 (2002).
   PubMedGoogle Scholar
• Bradley JL, Blake JC, Chamberlain S, Thomas PK, Cooper JM, Schapira AH. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum. Mal Genet. 9(2), 275–282 (2000).
   PubMedGoogle Scholar
• Casari G, De Fusco M, Ciarmatori S etal Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Ce1193(6), 973–983 (1998). Dermaut B, Van Broeckhoven C, Vissing J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal
   Google Scholar
• Van Goethem G, Dermaut B, Lofgren A.
   Google Scholar
• Schlame M, Towbin JA, Heerdt PM, Jehle R, DiMauro S, Blanck TJ. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann. Neural. 51(5), 634–637 (2002).
   PubMedGoogle Scholar
• Valianpour F, Wanders RJ, Overmars H et al Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J. PediatE 141(5), 729–733 (2002).
   Google Scholar
• Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mal Genet. Metab. 75(2), 97–107 (2002).
   Google Scholar
• Delettre C, Lenaers G, Griffoin JM eta]. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nature Genet. 26(2), 207–210 (2000).
   Google Scholar
• Suomalainen A, Kaukonen J. Diseases caused by nuclear genes affecting mtDNA stability Am J. Med. Genet. 106(1), 53–61 (2001).
   Google Scholar
• Napoli L, Bordoni A, Zeviani M eta]. A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology57(12), 2295–2298 (2001).
   Google Scholar
• Spelbrink JN, Li FY, Tiranti V etal Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nature Genet. 28(3), 223–231 (2001) . Erratum in: Nature Genet. 29(1), 100 (2001).
   Google Scholar
• Moraes CT A helicase is born. Nature Genet. 28(3), 200–201 (2001).
   Google Scholar
• Lamantea E, Tiranti V, Bordoni A et al Mutations of mitochondrial DNA polymerase-y A are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann. Neural. 52(2), 211–219 (2002).
   PubMedGoogle Scholar
• Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg 0. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nature Genet. 29(3), 342–344 (2001).
   Google Scholar
• Mandel H, Szargel R, Labay V etal The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genet. 29(3), 337–341 (2001). Erratum in: Nature Genet. 29(4), 491 (2001).
   Google Scholar
• Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283 (5402), 689–692 (1999).
   PubMedGoogle Scholar
• •First description of a mutation in a gene involved in nuclear—mitochondrial DNA communication.
   Google Scholar
• Rosenberg MJ, Agarwala R, Bouffard G etal Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nature Genet. 32(1), 175–179 (2002).
   Google Scholar
• Scharfe C, Hauschild M, Klopstock T etal A novel mutation in the thiamine responsive megaloblastic anemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.,/ Med. Genet. 37(9), 669–673 (2000). Labay V, Raz T, Baron D etal Mutations in SLC19A2 cause thiamine-responsive megaloblastic anemia associated with diabetes mellitus and deafness. Nature Genet. 22(3), 300–304 (1999). Hanson BJ, Capaldi RA, Marusich ME, Sherwood SW An immunocytochemical approach to detection of mitochondrial disorders. .1. Ifistochem. Cytochem. 50 (10), 1281–1288 (2002).
   Google Scholar
• De Lonlay P, Mugnier C, Sanlaville D etal Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes. Hum. Mal Genet. (26), 73–81 (2002).
   Google Scholar
• Zhu Z, Yao J, Johns T et al SLIM, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genet 20(4), 337–343 (1998).
   PubMedGoogle Scholar
• •First description of mutations in a gene involved in OXPHOS biogenesis in mitochondrial disorders.
   Google Scholar
• Carroll J, Feamley IM, Shannon RJ, Hirst J, Walker JE. Analysis of the subunit composition of complex I from bovine heart mitochondria. Mal Cell. Proteondcs (2), 117–126 (2003).
   Google Scholar
• Carroll J, Shannon RJ, Fearnley Walker JE, Hirst J. Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits. J. Biol. Chem. 277(52), 50311–50317 (2002).
   Google Scholar
• Hirst J, Carroll J, Feamley IM, Shannon RJ, Walker JE. The nuclear encoded subunits of complex I from bovine heart mitochondria. Biochim. Biophys. Acta 1604(3), 135–150 (2003).
   Google Scholar
• Janssen R, Smeitink J, Smeets R, van Den Heuvel L. CIA30 complex I assembly factor: a candidate for human complex I deficiency? Hum. Genet. (3), 264–270 (2002).
   Google Scholar
• Kuffner R, Rohr A, Schmiede A, Krull C, Schulte U. Involvement of two novel chaperones in the assembly of mitochondrial NADH:ubiquinone oxidoreductase (complex I). J. Mal Biol. 283(2), 409–417 (1998).
   Google Scholar
• Aggeler R, Coons J, Taylor SW eta]. A functionally active human FIFO ATPase can be purified by immunocapture from heart tissue and fibroblast cell lines. Subunit structure and activity studies. J. Biol. Chem. 277(37), 33906–33912 (2002).
   Google Scholar
• Antonicka H, Ogilvie I, Taivassalo T eta]. Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency. J. Biol. Chem. 278(44), 43081–43088 (2003).
   Google Scholar
• Chinnery PF, Brown DT, Andrews RM etal The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain 124\(Pt 1), 209–218 (2001).
   Google Scholar
• Simon DK, Friedman J, Breakefield etal A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia. Neurogenetics 4 (4), 199–205 (2003) .
   PubMedGoogle Scholar
• Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 130(1), 163–173 (1992).
   PubMedGoogle Scholar
• Taylor RVV, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann. Neural. 50(1), 104–107 (2001).
   Google Scholar
• Andreu AL, Tanji K, Bruno C etal Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Ann. Neural. 45(6), 820–823 (1999).
   Google Scholar
• Brown MD, Starikovskaya E, Derbeneva 0 etal The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum. Genet. 110(2), 130–138 (2002).
   Google Scholar
• Taylor RVV, Morris AA, Hutchinson M, Turnbull DM. Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur. J. Hum. Genet. 10(2), 141–144 (2002).
   Google Scholar
• Crimi M, Galbiati S, Moroni I eta]. A missense mutation in the mitochondrial ND5 gene associated with a Leigh—MELAS overlap syndrome. Neurology60(11), 1857–1861 (2003).
   Google Scholar
• Chol M, Lebon S, Benit eta]. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J. Merl Genet. 40(3), 188–191 (2003).
   Google Scholar
• Corona P, Antozzi C, Carrara F eta]. A novel mtDNA mutation in the ND5 subunit of complex Tin two MELAS patients. Ann. Neural. 49 (1), 106–110 (2001).
   Google Scholar
• Ravn K, Wibrand F, Hansen FJ, Horn N, Rosenberg T, Schwartz M. An mtDNA mutation, 14453G->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur. J. Hum. Genet. 9(10), 805–809 (2001).
   Google Scholar
• Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mal Cell. Biol. 16(3), 771–177 (1996).
   Google Scholar
• Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann. Neural. 48(1), 102–104 (2000).
   Google Scholar
• Valentino ML, Avoni P, Barboni etal Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. Ann. Neural. 51(6), 774–778 (2002).
   Google Scholar
• Carelli V, Ghelli A, Bucchi L etal Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. Ann. Neural. 45(3), 320–328 (1999).
   Google Scholar
• Keightley JA, Anitori R, Burton MD, Quan F, Buist NR, Kennaway NG. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Aimj Hum. Genet. 67(6), 1400–1410 (2000).
   Google Scholar
• Johns DR, Neufeld MJ. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 181(3), 1358–1364 (1991).
   Google Scholar
• Comi GP, Bordoni A, Salani S etal Cytochrome c oxidase subunit I microdeletion in a patient with motor neurone disease. Ann. Neural. 43(1), 110–116 (1998).
   PubMedGoogle Scholar
• Gattermann N, Retzlaff S, Wang YL etal Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. B/ooc/90(12), 4961–4972 (1997).
   Google Scholar
• Bruno C, Martinuzzi A, Tang Y et al A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am. J. Hum. Genet. 65(3), 611–620 (1999).
   Google Scholar
• Brown MD, Yang CC, Trounce I, Torroni A, Lott MT, Wallace DC. A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. Am.j Hum. Genet. 51(2), 378–385 (1992).
   Google Scholar
• Rahman S, Taanman JW, Cooper JM etal A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. Am. J. Hum. Genet. 65(4), 1030–1039 (1999).
   Google Scholar
• Campos Y, Garcia-Redondo A, Fernandez-Moreno MA etal Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome c oxidase II gene. Ann. Nemo'. 50(3), 409–413 (2001).
   PubMedGoogle Scholar
• Keightley JA, Hoffbuhr KC, Burton MD etal A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nature Genet. 12 (4), 410–416 (1996).
   Google Scholar
• Tiranti V, Corona P, Greco M etal A novel frameshift mutation of the mtDNA COXIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum. Mal Genet. 9(18), 2733–2742 (2000).
   PubMed Web of Science ®Google Scholar
• Johns DR, Neufeld MJ. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 196(2), 810–815 (1993).
   Google Scholar
• Manfredi G, Schon EA, Moraes etal A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromuscul Disorcl. 5(5), 391–398 (1995). loo Lamminen T, Majander A, Juvonen V et al A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. Am. J. Hum. Genet. 56(5), 1238–1240 (1995).
   Google Scholar
• Tarnopolsky MA, Maguire J, Myint T, Applegarth D, Robinson BH. Clinical, physiological and histological features in a kindred with the T3271C MELAS mutation. NIuscle Nerve 21(1), 25–33 (1998).
   Google Scholar
• Mongini T, Doriguzzi C, Chiado-Piat L, Silvestri G, Servidei S, Palmucci L. MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation. Clin. Neuropathol 21(2), 72–76 (2002).
   Google Scholar
• Lynn S, Wardell T, Johnson MA etal Mitochondrial diabetes: investigation and identification of a novel mutation. Diabetes 47(11), 1800–1802 (1998).
   PubMedGoogle Scholar
• Bosbach S, Kornblum C, Schroder R, Wagner M. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Brain 126(Pt 5), 1231–1240 (2003).
   PubMedGoogle Scholar
• Bruno C, Kirby DM, Koga Y etal The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy. j Perliatr 135(2 Pt 1), 197–202 (1999).
   Google Scholar
• Akanuma J, Muraki K, Komaki H, Nonaka I, Goto Y. Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene. J. Hum. Genet. 45 (6), 337–341 (2000).
   Google Scholar
• Weber K, Wilson JN, Taylor L etal A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am. J. Hum. Genet. 60(2), 373–380 (1997).
   Google Scholar
• Grasso M, Diegoli M, Brega A, Campana C, Tavazzi L, Arbustini E. The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu (CUM) and is associated with dilated cardiomyopathy. Eur Hum. Genet. 9(4), 311–315 (2001).
   Google Scholar
• Fu K, Harden R, Johns T, Genge A, Karpati G, Shoubridge EA. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum. Mal. Genet. 5(11), 1835–1840 (1996).
   Google Scholar
• Gattermann N, Retzlaff S, Wang YL etal A heteroplasmic point mutation of mitochondrial tRNALeu(CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia. BE JI-Lematol. 93(4), 845–855 (1996). iti Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Ce//61(6), 931–937 (1990).
   Google Scholar
• •Report of one of the first three mitochondria' DNA mutations in patients with a mitochondria' disorder.
   Google Scholar
• DiMauro S, Hirano M, Kaufmann P etal Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv. Neural. 89,217–229 (2002).
   PubMedGoogle Scholar
• Campos Y, Lorenzo G, Martin MA etal A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis and stroke-like episodes. Neummuscul Diford 10(7), 493–496 (2000).
   Google Scholar
• Shtilbans A, Shanske S, Goodman S etal G8363A mutation in the mitochondrial DNA transfer ribonucleic acid Lys gene: another cause of Leigh syndrome. J. Child Neural. 15(11), 759–761 (2000).
   Google Scholar
• Tiranti V, Carrara F, Confalonieri P etal A novel mutation (8342G->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus. Neummuscul Disold 9(2), 66–71 (1999).
   Google Scholar
• Taylor RVV, Giordano C, Davidson MM et al A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. jAm. Gall Carclial 41(10), 1786–1796 (2003).
   PubMedGoogle Scholar
• Taylor RVV, Schaefer AM, McFarland R, Maddison P, Turnbull DM. A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy. Neuromuscul Disord 12(7–8), 659–664 (2002).
   Google Scholar
• Silvestri G, Servidei S, Rana M eta]. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophthalmoplegia. Biochem. Biophys. Res. Commun. 220(3), 623–627 (1996).
   Google Scholar
• Hutchin TP, Lench NJ, Arbuzova S, Markham AF, Mueller RE Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. Eur j Hum. Genet. 9(1), 56–58 (2001).
   Google Scholar
• Nakamura M, Nakano S, Goto Y etal. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRPMELAS overlap syndrome. Biochem. Biophys. Res. Commun. 214(1), 86–93 (1995).
   Google Scholar
• Spagnolo M, Tomelleri G, Vattemi G, Filosto M, Rizzuto N, Tonin P A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia. Neuromuscul Disord.11(5), 481–484 (2001).
   PubMedGoogle Scholar
• Karadimas C, Tanji K, Geremek M etal A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy. j Child Neural 16 (7), 531–533 (2001).
   Google Scholar
• Shtilbans A, El-Schahawi M, Malkin E, Shanske S, Musumeci 0, DiMauro S. A novel mutation in the mitochondrial DNA transfer ribonucleic acid Asp gene in a child with myoclonic epilepsy and psychomotor regression. j Child Neural 14(9), 610–613 (1999).
   Google Scholar
• Bruno C, Sacco 0, Santorelli FM etal Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene. j Child Neural 18(4), 300–303 (2003).
   Google Scholar
• Hao H, Bonilla E, Manfredi G, DiMauro S, Moraes CT Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. Am. .1. Hum. Genet. 56(5), 1017–1025 (1995).
   Google Scholar
• Hanna MG, Nelson IP, Morgan-Hughes JA, Wood NW. MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. j Neural. Neurosurg. PTchiatry65(4), 512–517 (1998).
   Google Scholar
• Kleinle S, Schneider V, Moosmann P, Brandner S, Krahenbuhl S, Liechti-Gallati S. A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease. Biochem. Biophys. Res. Commun. 247(1), 112–115 (1998).
   Google Scholar
• Merante F, Tein I, Benson L, Robinson BH. Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. Am. Hum. Genet. 55(3), 437–446 (1994).
   Google Scholar
• Vissing J, Salamon MB, Arlien-Soborg P etal A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance. Neurology 50(6), 1875–1878 (1998).
   PubMedGoogle Scholar
• Vives-Bauza C, Del Toro M, Solano A, Montoya J, Andreu AL, Roig M. Genotype—phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA. j Inherit. Metab. Dis. 26(5), 507–508 (2003).
   Google Scholar
• Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Schon EA, DiMauro S. A mitochondrial tRNA anticodon swap associated with a muscle disease. Nature Genet. 4(3), 284–288 (1993).
   Google Scholar
• Dey R, Tengan CH, Morita MP, Kiyomoto BH, Moraes CT A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(G1n) anticodon loop. Neuromuscul Disonl. 10(7), 488–492 (2000).
   Google Scholar
• Bataillard M, Chatzoglou E, Rumbach L etal Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. Neurology 56 (3), 405–407 (2001).
   PubMedGoogle Scholar
• Nishino I, Seki A, Maegaki Y eta]. A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy. Biochem. Biophys. Res. Commun. 225(1), 180–185 (1996).
   Google Scholar
• De Coo IF, Sistermans EA, de Wijs IJ eta]. A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis and stroke-like episodes. Neurology50(1), 293–295 (1998).
   Google Scholar
• Chalmers RM, Lamont PJ, Nelson I eta]. A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome. Neurology49(2), 589–592 (1997).
   PubMedGoogle Scholar
• Tulinius M, Moslemi AR, Darin N etal Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. Neuropediatrics 34(2), 87–91 (2003).
   Google Scholar
• Sahashi K, Yoneda M, Ohno K, Tanaka M, Ibi T, Sahashi K. Functional characterization of mitochondrial tRNA(Tyr) mutation (5877->GA) associated with familial chronic progressive external ophthalmoplegia. j Med. Genet. 38(10), 703–705 (2001).
   Google Scholar
• Malik S, Sudoyo H, Sasmono T eta]. Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. J: Hum. Genet. 48(3), 119–124 (2003).
   Google Scholar
• Thyagarajan D, Bressman S, Bruno C eta]. A novel mitochondrial 12S rRNA point mutation in parkinsonism, deafness and neuropathy. Ann. Neural. 48(5), 730–736 (2000).
   Google Scholar
• Hsieh RII, Li JY, Pang CY, Wei YH. A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy. J. Blamed. Sc]. 8(4), 328–335 (2001).
   Google Scholar
• Benit P, Chretien D, Kadhom N et al Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am. Hum. Genet. 68(6), 1344–1352 (2001).
   Google Scholar
• Loeffen J, Elpeleg 0, Smeitink J etal Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. Ann. Neural. 49 (2), 195–201 (2001).
   Google Scholar
• Benit P, Steffann J, Lebon S eta]. Genotyping microsatellite DNA markers at Putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. Hum. Genet. 112(5–6), 563–566 (2003).
   Google Scholar
• Budde SM, van den Heuvel LP, Janssen AJ eta]. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem. Biophys. Res. Commun. 275 (1), 63–68 (2000).
   Google Scholar
• Petruzzella V, Vergari R, Puzziferri I et al A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AODO) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. Hum. Mal Genet. 10(5), 529–535 (2001).
   Google Scholar
• Triepels RII, van den Heuvel LP, Loeffen JL etal Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann. Neural 45(6), 787–790 (1999).
   Google Scholar
• Loeffen J, Smeitink J, Triepels R etal The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am. Hum. Genet. 63(6), 1598–1608 (1998).
   Google Scholar
• Schuelke M, Smeitink J, Mariman E et al Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nattily Genet. 21(3), 260–261 (1999).
   Google Scholar
• Benit P, Beugnot R, Chretien D etal Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum. Mutat. 21(6), 582–586 (2003).
   Google Scholar
• Birch-Machin MA, Taylor RVV, Cochran B, Ackrell BA, Turnbull DM. Late-onset optic atrophy, ataxia and myopathy associated with a mutation of a complex II gene. Ann. Neural 48(3), 330–335 (2000).
   Google Scholar
• Benn DE, Croxson MS, Tucker K eta]. Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Oncogene 22 (9), 1358–1364 (2003).
   PubMedGoogle Scholar
• Campuzano V, Montermini L, Molto MD etal Friedreiclis ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271(5254), 1423–1427 (1996).
   PubMed Web of Science ®Google Scholar
• DiMauro S, Schon EA. Nuclear power and mitochondrial disease. Nature Genet. 19(3), 214–215 (1998).
   Google Scholar
• Lewis S, Hutchison W Thyagarajan D, Dahl HH. Clinical and molecular features of adPEO due to mutations in the Twinkle gene. Neural Sc]. 201(1-2), 39–44 (2002).
   Google Scholar
• Taanman JW, Kateeb I, Muntau AC, Jaksch M, Cohen N, Mandel H. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Ann. Neural. 52 (2), 237–239 (2002).
   PubMedGoogle Scholar
• Kocaefe YC, Erdem S, Ozguc M, Tan E. Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. Eur J: Hum. Genet. 11(1), 102–104 (2003).
   Google Scholar
• Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anemia syndrome. Nature Genet. 22 (3), 309–312 (1999). Affiliations
   Google Scholar