The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

@article{Mayorov2005TheRO,
  title={The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.},
  author={V. I. Mayorov and V Biousse and N J Newman and Michael D. Brown},
  journal={Annals of neurology},
  year={2005},
  volume={58 5},
  pages={807-11}
}
Leber's hereditary optic neuropathy (LHON) causes central vision loss from bilateral optic neuropathy. Although 13 mitochondrial DNA (mtDNA) mutations are strongly associated with LHON, only three account for roughly 90% of cases and thus are found in multiple independent LHON families. The remaining LHON mutations are rare. Here, we describe the clinical and genetic characterization of a new LHON mtDNA mutation. The 12848T mutation alters a highly conserved amino acid in the ND5 complex I gene… CONTINUE READING

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