A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

Alston, Charlotte L.; Morak, Monika; Reid, Christopher; Hargreaves, Iain P.; Pope, Simon A.S.; Land, John M.; Heales, Simon J.; Horvath, Rita; Mundy, Helen; Taylor, Robert W.

doi:10.1016/j.nmd.2009.10.010

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Volume 20, Issue 2 , Pages 131-135, February 2010

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

Charlotte L. Alston
- Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK
Monika Morak
- University Hospital of the Ludwig-Maximilians-University, Campus Innenstadt, Munich, Germany
- MGZ – Center of Medical Genetics, Munich, Germany
Christopher Reid
- Department of Paediatric Nephrology, Evelina Children’s Hospital, Guys & St. Thomas’ NHS Foundation Trust, London, UK
Iain P. Hargreaves
- Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
Simon A.S. Pope
- Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
John M. Land
- Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
Simon J. Heales
- Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
- Chemical Pathology, Great Ormond Street Hospital, London, UK
Rita Horvath
- Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK
Helen Mundy
- Centre for Inherited Metabolic Disease, Guys & St. Thomas’ NHS Foundation Trust, London, UK
Robert W. Taylor
- Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK
- Corresponding author. Address: Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK. Tel.: +44 191 2223685; fax: +44 191 2824373.