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Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
Authors:Hana Antonicka,Elsebet Ø  stergaard,Florin Sasarman,Flemming Wibrand,Richard J. Rodenburg,Jan A.M. Smeitink,Eric A. Shoubridge
Affiliation:1 Montreal Neurological Institute and Department of Human Genetics, McGill University, Montreal H3A 2B4, Quebec, Canada
2 Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen 2100, Denmark
3 Department of Pediatrics, Glostrup Hospital, Glostrup 2600, Denmark
4 Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HB, The Netherlands
5 Department of Pediatrics, VU University Medical Centre, Amsterdam 1081 HV, The Netherlands
6 Mitochondrial Research Group, Institute for Ageing and Health, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK
Abstract:
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