Neuromuscular Disorders
Volume 17, Issue 8 , Pages 651-654 , August 2007

Mitochondrial myopathy associated with a novel mutation in mtDNA

  • Jacklyn Pancrudo

      Affiliations

    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians & Surgeons, Columbia University Medical Center, 630 W 168th Street, New York, NY 10032, United States
    • ,
  • Sara Shanske

      Affiliations

    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians & Surgeons, Columbia University Medical Center, 630 W 168th Street, New York, NY 10032, United States
    • ,
  • Jorida Coku

      Affiliations

    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians & Surgeons, Columbia University Medical Center, 630 W 168th Street, New York, NY 10032, United States
    • ,
  • J. Lu

      Affiliations

    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians & Surgeons, Columbia University Medical Center, 630 W 168th Street, New York, NY 10032, United States
    • ,
  • Rebecca Mardach

      Affiliations

    • Division of Medical Genetics, Kaiser Permanente, Los Angeles, CA, United States
    • ,
  • Orhan Akman

      Affiliations

    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians & Surgeons, Columbia University Medical Center, 630 W 168th Street, New York, NY 10032, United States
    • ,
  • Sindu Krishna

      Affiliations

    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians & Surgeons, Columbia University Medical Center, 630 W 168th Street, New York, NY 10032, United States
    • ,
  • Eduardo Bonilla

      Affiliations

    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians & Surgeons, Columbia University Medical Center, 630 W 168th Street, New York, NY 10032, United States
    • ,
  • Salvatore DiMauro

      Affiliations

    • H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians & Surgeons, Columbia University Medical Center, 630 W 168th Street, New York, NY 10032, United States
    • Corresponding Author InformationCorresponding author. Tel.: +212 305 1662; fax: +212 305 3986.

Received 12 December 2006 ,Revised 30 March 2007 ,Accepted 19 April 2007.

References 

  1. Schon EA. Appendix. In:  DiMauro S,  Hirano M,  Schon EA editor. Mitochondrial Medicine. London: Taylor & Francis; 2006;p. 329–335
  2. Tanji K, Bonilla E. Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria. Meth Cell Biol. 2001;65:311–332
  3. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol. 1987;22:498–506
  4. Shanske S, Pancrudo J, Kaufmann P, et al. Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis. Am J Med Genet. 2004;130A:134–137
  5. Hayashi JI, Ohta S, Kagawa Y, et al. Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes. J Biol Chem. 1994;269:19060–19066
  6. Uusimaa J, Finnila S, Remes AM, et al. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. Pediatrics. 2004;114:443–450
  7. Pons R, Andreu AL, Checcarelli N, et al. Mitochondrial DNA abnormalities and autistic spectrum disorders. J Pediatr. 2004;144:81–85

PII: S0960-8966(07)00141-1

doi: 10.1016/j.nmd.2007.04.005

Neuromuscular Disorders
Volume 17, Issue 8 , Pages 651-654 , August 2007

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