Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

  title={Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment},
  author={Howard T. Jacobs and Timothy P Hutchin and Timo K{\"a}ppi and Greta Gillies and Kia Minkkinen and John Walker and Karen Louise Elliott Thompson and Anja T. Rovio and Massimo Carella and Salvatore Melchionda and Leopoldo Zelante and Paolo Gasparini and Ilmari Pyykk{\"o} and Zahid Hussain Shah and Massimo Zeviani and Robert Franz M{\"u}ller},
  journal={European Journal of Human Genetics},
Mitochondrial mutations have previously been reported anecdotally in families with maternally inherited, nonsyndromic hearing impairment. To ascertain the contribution of mitochondrial mutations to postlingual but early-onset, nonsyndromic hearing impairment, we screened patients collected from within two different populations (southern Italy and UK) for previously reported mtDNA mutations associated with hearing disorders. Primer extension (SNP analysis) was used to screen for specific… CONTINUE READING


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