Extra-ocular muscle MRI in genetically-defined mitochondrial disease

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• 作者：Robert D. S. Pitceathly ; Jasper M. Morrow ; Christopher D. J. Sinclair…
• 关键词：Magnetic resonance imaging ; Mitochondrial diseases ; Mitochondrial DNA ; Chronic progressive external ophthalmoplegia ; Kearns ; Sayre syndrome
• 刊名：European Radiology
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：26
• 期：1
• 页码：130-137
• 全文大小：542 KB
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• 作者单位：Robert D. S. Pitceathly (1)
  Jasper M. Morrow (1)
  Christopher D. J. Sinclair (1) (2)
  Cathy Woodward (3)
  Mary G. Sweeney (3)
  Shamima Rahman (1) (4)
  Gordon T. Plant (5) (6)
  Nadeem Ali (5) (6)
  Fion Bremner (5)
  Indran Davagnanam (7)
  Tarek A. Yousry (1) (2)
  Michael G. Hanna (1)
  John S. Thornton (1) (2)
  
  1. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK
  2. Neuroradiological Academic Unit, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, London, WC1N 3BG, UK
  3. Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK
  4. Mitochondrial Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, WC1N 1EH, UK
  5. Department of Neuro-ophthalmology, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK
  6. Department of Neuro-ophthalmology, Moorfields Eye Hospital, London, EC1V 2PD, UK
  7. The Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Imaging and Radiology
  Diagnostic Radiology
  Interventional Radiology
  Neuroradiology
  Ultrasound
  Internal Medicine
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1084

文摘

Objectives Conventional and quantitative MRI was performed in patients with chronic progressive external ophthalmoplegia (CPEO), a common manifestation of mitochondrial disease, to characterise MRI findings in the extra-ocular muscles (EOMs) and investigate whether quantitative MRI provides clinically relevant measures of disease.