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. 1995 Aug;73(2):94–97. doi: 10.1136/adc.73.2.94-a

Investigation of mitochondrial disease.

J Poulton 1, G K Brown 1
PMCID: PMC1511186  PMID: 7574881

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Attardi G., Schatz G. Biogenesis of mitochondria. Annu Rev Cell Biol. 1988;4:289–333. doi: 10.1146/annurev.cb.04.110188.001445. [DOI] [PubMed] [Google Scholar]
  2. Brown G. K. Pyruvate dehydrogenase E1 alpha deficiency. J Inherit Metab Dis. 1992;15(4):625–633. doi: 10.1007/BF01799619. [DOI] [PubMed] [Google Scholar]
  3. Casademont J., Barrientos A., Cardellach F., Rötig A., Grau J. M., Montoya J., Beltrán B., Cervantes F., Rozman C., Estivill X. Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. Hum Mol Genet. 1994 Nov;3(11):1945–1949. doi: 10.1093/hmg/3.11.1945. [DOI] [PubMed] [Google Scholar]
  4. De Vivo D. C. The expanding clinical spectrum of mitochondrial diseases. Brain Dev. 1993 Jan-Feb;15(1):1–22. doi: 10.1016/0387-7604(93)90002-p. [DOI] [PubMed] [Google Scholar]
  5. Fischel-Ghodsian N., Prezant T. R., Bu X., Oztas S. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am J Otolaryngol. 1993 Nov-Dec;14(6):399–403. doi: 10.1016/0196-0709(93)90113-l. [DOI] [PubMed] [Google Scholar]
  6. Goto Y., Nonaka I., Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990 Dec 13;348(6302):651–653. doi: 10.1038/348651a0. [DOI] [PubMed] [Google Scholar]
  7. Goto Y., Nonaka I., Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta. 1991 Oct 21;1097(3):238–240. doi: 10.1016/0925-4439(91)90042-8. [DOI] [PubMed] [Google Scholar]
  8. Holt I. J., Harding A. E., Morgan-Hughes J. A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988 Feb 25;331(6158):717–719. doi: 10.1038/331717a0. [DOI] [PubMed] [Google Scholar]
  9. Holt I. J., Harding A. E., Petty R. K., Morgan-Hughes J. A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 1990 Mar;46(3):428–433. [PMC free article] [PubMed] [Google Scholar]
  10. Howell N., Bindoff L. A., McCullough D. A., Kubacka I., Poulton J., Mackey D., Taylor L., Turnbull D. M. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet. 1991 Nov;49(5):939–950. [PMC free article] [PubMed] [Google Scholar]
  11. Johns D. R., Heher K. L., Miller N. R., Smith K. H. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol. 1993 Apr;111(4):495–498. doi: 10.1001/archopht.1993.01090040087038. [DOI] [PubMed] [Google Scholar]
  12. Larsson N. G., Holme E., Kristiansson B., Oldfors A., Tulinius M. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res. 1990 Aug;28(2):131–136. doi: 10.1203/00006450-199008000-00011. [DOI] [PubMed] [Google Scholar]
  13. McShane M. A., Hammans S. R., Sweeney M., Holt I. J., Beattie T. J., Brett E. M., Harding A. E. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet. 1991 Jan;48(1):39–42. [PMC free article] [PubMed] [Google Scholar]
  14. Moraes C. T., Shanske S., Tritschler H. J., Aprille J. R., Andreetta F., Bonilla E., Schon E. A., DiMauro S. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3):492–501. [PMC free article] [PubMed] [Google Scholar]
  15. Poulton J., Morten K. J., Weber K., Brown G. K., Bindoff L. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Hum Mol Genet. 1994 Jun;3(6):947–951. doi: 10.1093/hmg/3.6.947. [DOI] [PubMed] [Google Scholar]
  16. Poulton J., Morten K. Noninvasive diagnosis of the MELAS syndrome from blood DNA. Ann Neurol. 1993 Jul;34(1):116–116. doi: 10.1002/ana.410340124. [DOI] [PubMed] [Google Scholar]
  17. Prezant T. R., Agapian J. V., Bohlman M. C., Bu X., Oztas S., Qiu W. Q., Arnos K. S., Cortopassi G. A., Jaber L., Rotter J. I. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet. 1993 Jul;4(3):289–294. doi: 10.1038/ng0793-289. [DOI] [PubMed] [Google Scholar]
  18. Rötig A., Cormier V., Blanche S., Bonnefont J. P., Ledeist F., Romero N., Schmitz J., Rustin P., Fischer A., Saudubray J. M. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest. 1990 Nov;86(5):1601–1608. doi: 10.1172/JCI114881. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Shoffner J. M., Lott M. T., Lezza A. M., Seibel P., Ballinger S. W., Wallace D. C. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell. 1990 Jun 15;61(6):931–937. doi: 10.1016/0092-8674(90)90059-n. [DOI] [PubMed] [Google Scholar]
  20. Tatuch Y., Robinson B. H. The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem Biophys Res Commun. 1993 Apr 15;192(1):124–128. doi: 10.1006/bbrc.1993.1390. [DOI] [PubMed] [Google Scholar]
  21. Tritschler H. J., Andreetta F., Moraes C. T., Bonilla E., Arnaudo E., Danon M. J., Glass S., Zelaya B. M., Vamos E., Telerman-Toppet N. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology. 1992 Jan;42(1):209–217. doi: 10.1212/wnl.42.1.209. [DOI] [PubMed] [Google Scholar]
  22. Wallace D. C., Singh G., Lott M. T., Hodge J. A., Schurr T. G., Lezza A. M., Elsas L. J., 2nd, Nikoskelainen E. K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988 Dec 9;242(4884):1427–1430. doi: 10.1126/science.3201231. [DOI] [PubMed] [Google Scholar]
  23. Zeviani M., Servidei S., Gellera C., Bertini E., DiMauro S., DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature. 1989 May 25;339(6222):309–311. doi: 10.1038/339309a0. [DOI] [PubMed] [Google Scholar]
  24. de Vries D. D., van Engelen B. G., Gabreëls F. J., Ruitenbeek W., van Oost B. A. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol. 1993 Sep;34(3):410–412. doi: 10.1002/ana.410340319. [DOI] [PubMed] [Google Scholar]

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