Article
Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression.
Human genetics - 1 Apr 2001
Uimonen S, Moilanen J S, Sorri M, Hassinen I E, Majamaa K
Abstract excerpt
The relationship between the phenotype and the genotype is complex in diseases caused by mutations in mitochondrial DNA (mtDNA). The 3243A-->G mutation in mtDNA frequently leads to sensorineural hearing impairment (HI), a phenotype that can be assessed in severity by audiometry; hence, consecutiv...
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