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References

These sources were used to develop the Genetics Home Reference chromosome summary on mitochondrial DNA.

Boles RG, Adams K, Ito M, Li BU. Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease. Am J Med Genet A. 2003 Aug 1;120A(4):474-82. PubMed citation
Boles RG, Adams K, Li BU. Maternal inheritance in cyclic vomiting syndrome. Am J Med Genet A. 2005 Feb 15;133A(1):71-7. PubMed citation
Boles RG, Chun N, Senadheera D, Wong LJ. Cyclic vomiting syndrome and mitochondrial DNA mutations. Lancet. 1997 Nov 1;350(9087):1299-300. PubMed citation
Deschauer M, Müller T, Wieser T, Schulte-Mattler W, Kornhuber M, Zierz S. Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. Arch Neurol. 2001 Nov;58(11):1885-8. PubMed citation
Dimauro S, Davidzon G. Mitochondrial DNA and disease. Ann Med. 2005;37(3):222-32. Review. PubMed citation
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Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Gasser T; European Federation of Neurological Sciences. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol. 2009 Dec;16(12):1255-64. PubMed citation
Fischel-Ghodsian N, Kopke RD, Ge X. Mitochondrial dysfunction in hearing loss. Mitochondrion. 2004 Sep;4(5-6):675-94. Epub 2004 Nov 6. PubMed citation
Fischel-Ghodsian N. Mitochondrial deafness. Ear Hear. 2003 Aug;24(4):303-13. Review. PubMed citation
Gene Review: Mitochondrial Disorders
Guan MX. Molecular pathogenetic mechanism of maternally inherited deafness. Ann N Y Acad Sci. 2004 Apr;1011:259-71. PubMed citation
Kang D, Hamasaki N. Alterations of mitochondrial DNA in common diseases and disease states: aging, neurodegeneration, heart failure, diabetes, and cancer. Curr Med Chem. 2005;12(4):429-41. Review. PubMed citation
Koga Y, Akita Y, Takane N, Sato Y, Kato H. Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene. Arch Dis Child. 2000 May;82(5):407-11. PubMed citation
McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurol. 2002 Oct;1(6):343-51. Review. PubMed citation
McKenzie M, Liolitsa D, Hanna MG. Mitochondrial disease: mutations and mechanisms. Neurochem Res. 2004 Mar;29(3):589-600. Review. PubMed citation
Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. Arch Neurol. 2004 Feb;61(2):269-72. PubMed citation
Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? J Clin Invest. 1993 Dec;92(6):2906-15. PubMed citation
Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, Schon EA, Bonilla E, DiMauro S. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord. 1993 Jan;3(1):43-50. PubMed citation
Nakamura M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H, Akiguchi I, Kaji R, Kimura J. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys Res Commun. 1995 Sep 5;214(1):86-93. PubMed citation
Penta JS, Johnson FM, Wachsman JT, Copeland WC. Mitochondrial DNA in human malignancy. Mutat Res. 2001 May;488(2):119-33. Review. PubMed citation
Porteous WK, James AM, Sheard PW, Porteous CM, Packer MA, Hyslop SJ, Melton JV, Pang CY, Wei YH, Murphy MP. Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion. Eur J Biochem. 1998 Oct 1;257(1):192-201. PubMed citation
Pulkes T, Liolitsa D, Eunson LH, Rose M, Nelson IP, Rahman S, Poulton J, Marchington DR, Landon DN, Debono AG, Morgan-Hughes JA, Hanna MG. New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation. Neuromuscul Disord. 2005 May;15(5):364-71. PubMed citation
Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet. 1995 Aug;4(8):1327-30. PubMed citation
Sadikovic B, Wang J, El-Hattab A, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LJ. Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 Dec 20;5(12):e15687. doi: 10.1371/journal.pone.0015687. PubMed citation
Sano M, Ozawa M, Shiota S, Momose Y, Uchigata M, Goto Y. The T-C(8356) mitochondrial DNA mutation in a Japanese family. J Neurol. 1996 Jun;243(6):441-4. PubMed citation
Schröder R, Vielhaber S, Wiedemann FR, Kornblum C, Papassotiropoulos A, Broich P, Zierz S, Elger CE, Reichmann H, Seibel P, Klockgether T, Kunz WS. New insights into the metabolic consequences of large-scale mtDNA deletions: a quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle. J Neuropathol Exp Neurol. 2000 May;59(5):353-60. PubMed citation
Sciacco M, Bonilla E, Schon EA, DiMauro S, Moraes CT. Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet. 1994 Jan;3(1):13-9. Erratum in: Hum Mol Genet 1994 Apr;3(4):687. PubMed citation
Serra G, Piccinnu R, Tondi M, Muntoni F, Zeviani M, Mastropaolo C. Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. Brain Dev. 1996 May-Jun;18(3):185-91. PubMed citation
Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nat Rev Genet. 2005 May;6(5):389-402. Review. PubMed citation
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. PubMed citation
Van Camp G, Smith RJ. Maternally inherited hearing impairment. Clin Genet. 2000 Jun;57(6):409-14. Review. PubMed citation
van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, van de Kamp JJ, Maassen JA. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1992 Aug;1(5):368-71. PubMed citation
Wallace DC. Mitochondrial diseases in man and mouse. Science. 1999 Mar 5;283(5407):1482-8. Review. PubMed citation
Wang Q, Ito M, Adams K, Li BU, Klopstock T, Maslim A, Higashimoto T, Herzog J, Boles RG. Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome. Am J Med Genet A. 2004 Nov 15;131(1):50-8. PubMed citation
Yamashita S, Nishino I, Nonaka I, Goto Y. Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet. 2008;53(7):598-606. doi: 10.1007/s10038-008-0289-8. Epub 2008 Apr 15. PubMed citation
Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet. 1993;1(1):80-7. Erratum in: Eur J Hum Genet 1993;1(2):124. PubMed citation