Natural History of Limb Girdle Muscular Dystrophy R9 Over 6 Years: Searching for Trial Endpoints Alexander P
RESEARCH ARTICLE Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints Alexander P. Murphy1 , Jasper Morrow2, Julia R. Dahlqvist3 , Tanya Stojkovic4, Tracey A. Willis5, Christopher D. J. Sinclair2, Stephen Wastling2, Tarek Yousry2 , Michael S. Hanna2 , Meredith K. James1, Anna Mayhew1 , Michelle Eagle1, Laurence E. Lee2, Jean-Yves Hogrel6 , Pierre G. Carlier6, John S. Thornton2, John Vissing3, Kieren G. Hollingsworth7,* & Volker Straub1,* 1The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle Upon Tyne, United Kingdom, NE1 4EP 2Department of Molecular Neurosciences, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom 3Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark 4Institute of Myology, AP6HP, G-H Pitie-Salp etri^ ere, 47-83 boulevard de l’hopital,^ 75651 Paris Cedex 13, France 5The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, Shropshire, United Kingdom 6Institute of Myology, Neuromuscular Investigation Center, Pitie-Salp etri^ ere Hospital, Paris, France 7Newcastle Magnetic Resonance Centre, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom Correspondence Abstract Alexander P. Murphy, The John Walton Objective Muscular Dystrophy Research Centre, : Limb girdle muscular dystrophy type R9 (LGMD R9) is an autoso- Institute of Genetic Medicine, Newcastle mal recessive muscle disease for which there is currently no causative treatment. University, Newcastle Hospitals NHS The development of putative therapies requires sensitive outcome measures for Foundation Trust, Central Parkway, clinical trials in this slowly progressing condition. This study extends functional Newcastle Upon Tyne, United Kingdom NE1 assessments and MRI muscle fat fraction measurements in an LGMD R9 cohort 4EP.
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