Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

Robert D S Pitceathly; Susan E Tomlinson; Iain Hargreaves; Nisha Bhardwaj; Janice L Holton; Jasper M Morrow; Julie Evans; Conrad Smith; Carl Fratter; Cathy E Woodward; Mary G Sweeney; Shamima Rahman; Michael G Hanna

doi:10.1136/jnnp-2012-303232

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Neuromuscular

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Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

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Robert D S Pitceathly MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK PubMed articles Google scholar articles
Susan E Tomlinson MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UKSydney Medical School, University of Sydney, Sydney, New South Wales, Australia PubMed articles Google scholar articles
Iain Hargreaves Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK PubMed articles Google scholar articles
Nisha Bhardwaj Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK PubMed articles Google scholar articles
Janice L Holton MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UKDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK PubMed articles Google scholar articles
Jasper M Morrow MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK PubMed articles Google scholar articles
Julie Evans Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford, UK PubMed articles Google scholar articles
Conrad Smith Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford, UK PubMed articles Google scholar articles
Carl Fratter Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Oxford, UK PubMed articles Google scholar articles
Cathy E Woodward Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK PubMed articles Google scholar articles
Mary G Sweeney Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK PubMed articles Google scholar articles
Shamima Rahman MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UKMitochondrial Research Group, UCL Institute of Child Health, London, UK PubMed articles Google scholar articles
Michael G Hanna MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UKDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK PubMed articles Google scholar articles

Correspondence to Dr Shamima Rahman, MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, 8-11 Queen Square, London WC1N 3BG, UK; shamima.rahman{at}ucl.ac.uk

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Citation

Pitceathly RDS, Tomlinson SE, Hargreaves I, et al

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

Journal of Neurology, Neurosurgery & Psychiatry 2013;84:107-110.

Publication history

Received May 14, 2012
Revised July 20, 2012
Accepted July 28, 2012
First published August 29, 2012.

Online issue publication

April 13, 2016

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