Mitochondrial deafness mutations reviewed.

@article{FischelGhodsian1999MitochondrialDM,
  title={Mitochondrial deafness mutations reviewed.},
  author={Nathan Fischel-Ghodsian},
  journal={Human mutation},
  year={1999},
  volume={13 4},
  pages={261-70}
}
The first molecular defect for nonsyndromic hearing loss was identified in 1993, and was a mitochondrial mutation. Since then a number of inherited mitochondrial DNA (mtDNA) mutations have been implicated in hearing loss, and acquired mtDNA mutations have been proposed as one of the causes of the hearing loss associated with aging, presbyacusis. These molecular findings have raised as many questions as they have answered, however, since the pathophysiology between the mutations and the clinical… CONTINUE READING

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