Genotype-phenotype correlation of maternally inherited disorders due to mutations in mitochondrial DNA

Peterus Thajeb, Daofu Dai, Ming Fu Chiang, Woei Cherng Shyu

Research output: Contribution to journalReview articlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)201-207
Number of pages7
JournalTaiwanese Journal of Obstetrics and Gynecology
Volume45
Issue number3
DOIs
StatePublished - Sep 2006
Externally publishedYes

Keywords

  • Encephalopathy
  • Epilepsy
  • Mitochondrial disease
  • Mitochondrial DNA
  • Mutation
  • Myopathy
  • Oxidative phosphorylation
  • OXPHOS disease

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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