Taiwanese Journal of Obstetrics and Gynecology
Volume 45, Issue 3 , Pages 201-207, September 2006

Genotype-Phenotype Correlation of Maternally Inherited Disorders due to Mutations in Mitochondrial DNA

  • Peterus Thajeb

      Affiliations

    • Department of Neurology, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of National Yang-Ming University School of Medicine, Taipei, Taiwan
    • Department of Taipei Medical University, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Peterus Thajeb, P.O. Box Nei-Hu 6-30, Taipei City 11499, Taiwan
    • ,
  • Daofu Dai

      Affiliations

    • Department of Pathology, School of Medicine, University of Washington, Seattle, USA
    • ,
  • Ming-Fu Chiang

      Affiliations

    • Department of Neurosurgery, Taipei, Taiwan
    • ,
  • Woei-Cherng Shyu

      Affiliations

    • Department of Neurology, Neuromedical Scientific Center, Tzu-Chi University, Hualien, Taiwan

Accepted 31 March 2006.

Article Outline

Summary

Mitochondrial disorders are heterogeneous systemic ailments that are most often caused by maternal inheritance of a variety of mutations of the mitochondrial (mt) DNA. Paternal inheritance and somatic mutation are rare. The disorders are well recognized not only for the genotypic heterogeneity, but also the phenotypic variation among the affected members of a single family. The genotype-phenotype correlation of the diversity of the syndromic and non-syndromic features of mitochondrial disorders are discussed. Some aspects of the molecular mechanisms of this heterogeneity, and the histopathologic findings are highlighted.

Key Words:  encephalopathy , epilepsy , mitochondrial disease , mitochondrial DNA , mutation , myopathy , oxidative phosphorylation , OXPHOS disease

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PII: S1028-4559(09)60225-4

doi:10.1016/S1028-4559(09)60225-4

Taiwanese Journal of Obstetrics and Gynecology
Volume 45, Issue 3 , Pages 201-207, September 2006

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