X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

@article{Hudson2007XInactivationPI,
  title={X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.},
  author={G. F. S. Hudson and V Carelli and Rita Horvath and Massimo Zeviani and Hubert J.M. Smeets and Patrick F. Chinnery},
  journal={Molecular vision},
  year={2007},
  volume={13},
  pages={
          2339-43
        }
}
PURPOSE Leber hereditary optic neuropathy (LHON) is a common cause of genetically determined blindness in young adults. LHON preferentially affects males and is primarily due to a mutation affecting complex I genes of mitochondrial DNA (mtDNA). While LHON primarily affects men, a number of women are affected. Segregation analysis has implicated an interacting recessive X-chromosomal locus, with skewed X-inactivation as an explanation for visual failure in affected women. Small studies have… CONTINUE READING

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