Neuromuscular Disorders
Volume 19, Issue 4 , Pages 297-299 , April 2009

The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia

  • Evangelia Sotiriou

      Affiliations

    • Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    • ,
  • Jorida Çoku

      Affiliations

    • Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    • ,
  • Kurenai Tanji

      Affiliations

    • Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    • Department of Pathology, Columbia University Medical Center, New York, NY 10032, USA
    • ,
  • Hua-bin Huang

      Affiliations

    • Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    • ,
  • Michio Hirano

      Affiliations

    • Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    • ,
  • Salvatore DiMauro

      Affiliations

    • Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    • Corresponding Author InformationCorresponding author. Tel.: +1 212 305 1662; fax: +1 305 3986.

Received 29 December 2008 ,Accepted 30 January 2009.

References 

  1. DiMauro S, Davidzon G. Mitochondrial DNA and disease. Ann Med. 2005;37:222–232
  2. Moraes CT, Ciacci F, Silvestri G, et al. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromusc Disord. 1993;3:43–50
  3. Kirino Y, Goto YI, Campos Y, Arenas J, Suzuki T. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. Proc Nat Acad Sci USA. 2005;102:7127–7132
  4. Hutchinson WM, Thyagarajan D, Poulton J, et al. Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNALeu(UUR) gene. Arch Neurol. 2005;62:1920–1923
  5. Pulkes T, Hanna MG. Human mitochondrial DNA disease. Adv Drug Deliv Rev. 2001;49:27–43
  6. Schon EA, Bonilla E, DiMauro S. Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr. 1997;29:131–149
  7. Nishigaki Y, Tadesse S, Bonilla E, et al. A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. Neuromusc Disord. 2003;13:334–340
  8. Yasukawa T, Suzuki T, Ishii N, Ueda T, Ohta S, Watanabe K. Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNALys with the MERRF encephalomyopathy pathogenic mutation. FEBS Lett. 2000;467:175–178
  9. Yao YG, Ogasawara Y, Kajigaya S, et al. Mitochondrial DNA sequence variation in single cells from leukemia patients. Blood. 2007;109:756–762
  10. Carew JS, Zhou Y, Albitar M, Carew JD, Keating MJ, Huang P. Mitochondrial DNA mutations in primary leukemia cells after chemotherapy: clinical significance and therapeutic implications. Leukemia. 2003;17:1437–1447

PII: S0960-8966(09)00029-7

doi: 10.1016/j.nmd.2009.01.014

Neuromuscular Disorders
Volume 19, Issue 4 , Pages 297-299 , April 2009

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