Article
Mitochondrial deafness mutations reviewed.
Human mutation - 1 Jan 1999
Fischel-Ghodsian N
Abstract excerpt
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...
Topics
- DNA, Mitochondrial
- Deafness
- Humans
- Models, Genetic
- Mutation
- Penetrance
- Presbycusis
- Tissue Distribution