Volume 2011, Issue 1
  • ISSN: 0253-8253
  • EISSN: 2227-0426


Mitochondrial disease with myopathy is a rare progressive disease which affects more than one system of the body. It can be diagnosed only by muscle biopsy showing ragged red fiber cells (RRFs) that requires special (trichrome) staining, often not available in routine histopathology laboratories. There is no specific treatment or cure for the condition. A case, confirmed by biopsy, is reported in a 42-year-old Qatari female suffering from previously undiagnosed chronic progressive weakness and possibly related hyperthyroidism. Muscle weakness, deafness, muscle biopsy Hyperthyroidism


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  1. Friedrich Luft C. Notch 3 and mitochondrial DNA. Journal of Molecular Medicine, Jimm. 2001; 79:11:613614.
    [Google Scholar]
  2. Harden Ann, Pampiglione G, Battaglia A. Mitochondrial myopathy or mitochondrial disease? Journal of Neurology Neurosurgery, and Psychiatry. 1982; 45::627632.
    [Google Scholar]
  3. Omar Fattal, Kumar Budur, Vaughan Aaron J, Kathleen Franco. Review of the Literature on Major Mental Disorders in Adult Patients with Mitochondrial Diseases. Psychosomatics. 2006; 47::17, February.
    [Google Scholar]
  4. Adams Victor. The Inherited Metabolic Diseases of Nervous System Major Categories of Neurologic Disease. (Neurology Part 4). , Chapter 37.
    [Google Scholar]
  5. Graff C, Clayton DA, Larsson NG. Mitochondrial Medicine Recent- Advance. Journal of Internal Medicine. 1999; 246:1:1123, July.
    [Google Scholar]
  6. Hesterlee Sharon. Mitochondrial Disease In Perspective Symptoms Diagnosis and Hope for the Future. QUEST. 1999; 6:4, August.
    [Google Scholar]
  7. Fernands-Sola J, Grau C, Graus F, Cardellach F, Pedrol E, Urbano- Maquez A. Adult onset mitochondrial myopathy. Postgrad Med J. 1992; 68::212215.
    [Google Scholar]
  8. Olsen DB, Langkild AR, Metre C, Eigil RO, Schwartz J. Vissing and JON 120, Muscle structural changes in mitochondrial Myopathy relate to genotype. J Neurol. 2003; 250::13281334.
    [Google Scholar]
  9. Beatrice C, Adhihetty Peter J, Vladimir L, David A. How is Mitochondrial Biogenesis Affected in Mitochondrial Disease? 2005; 37::10210.
    [Google Scholar]
  • Article Type: Case Report
Keyword(s): deafnesshyperthyroidismmuscle biopsy and Muscle weakness
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