The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

Affiliations

¹ Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
² Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
³ Micropathology Ltd, University of Warwick Science Park, Venture Centre, Sir William Lyons Road, Coventry, CV4 7EZ, UK.
⁴ Department of Molecular Genetics, great Ormond Street for Children NHS Trust and UCL Institute of Child Health, London, WC1N 3JH.
⁵ Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford, OX3 7LE, UK.
⁶ Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, WC1N3BG, UK.

Peter Kullar et al. Hearing Balance Commun. 2016.

. 2016;14(2):101-102.

doi: 10.3109/21695717.2016.1151124. Epub 2016 May 20.

¹ Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
² Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
³ Micropathology Ltd, University of Warwick Science Park, Venture Centre, Sir William Lyons Road, Coventry, CV4 7EZ, UK.
⁴ Department of Molecular Genetics, great Ormond Street for Children NHS Trust and UCL Institute of Child Health, London, WC1N 3JH.
⁵ Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford, OX3 7LE, UK.
⁶ Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, WC1N3BG, UK.

No abstract available

References

1. Estivill X, Govea N, Barcelo E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. American journal of human genetics. 1998;62(1):27–35. - PMC - PubMed
1. Vandebona H, Mitchell P, Manwaring N, et al. Prevalence of mitochondrial 1555A-->G mutation in adults of European descent. The New England journal of medicine. 2009;360(6):642–4. doi: 10.1056/NEJMc0806397[published Online First: Epub Date] - PubMed