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Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis |
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| Authors: | Domínguez-González Cristina Fernández-Torrón Roberto Moore Ursula de Fuenmayor-Fernández de la Hoz Carlos Pablo Vélez-Gómez Beatriz Cabezas Juan Antonio Alonso-Pérez Jorge González-Mera Laura Olivé Montse García-García Jorge Moris Germán León Hernández Juan Carlos Muelas Nuria Servian-Morilla Emilia Martin Miguel A. Díaz-Manera Jordi Paradas Carmen |
| Affiliation: | 1.Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain ;2.Hospital 12 de Octubre Research Institute (imas12), Madrid, Spain ;3.Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain ;4.Neurology Department, Biodonostia Health Research Institute, Neuromuscular Area, Hospital Donostia, Basque Health Service, Doctor Begiristain, Donostia-San Sebastian, Spain ;5.John Walton Muscular Dystrophy Research Center, University of Newcastle, Newcastle, UK ;6.Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario Virgen del Rocío/ Instituto de Biomedicina de Sevilla, Sevilla, Spain ;7.Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain ;8.Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Bellaterra, Spain ;9.Neuromuscular Diseases Unit, Neurology Department, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain ;10.Institut de Recerca, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain ;11.Department of Neurology. Hospital, Universitario de Albacete., Albacete, Spain ;12.Neuromuscular Diseases Unit. Neurology Department. Hospital, Universitario Central de Asturias, Asturias, Spain ;13.Neurology Department. Hospital, Universitario Nuestra Señora de Candelaria, Tenerife, Spain ;14.Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politecnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain ;15.Mitochondrial Disorders Laboratory, Clinical Biochemistry Department, Hospital Universitario 12 de Octubre, Madrid, Spain ;16.Unidad de Enfermedades Neuromusculares (CSUR/EURO-NMD), Hospital Universitario Virgen del Rocío/ Instituto de Biomedicina de Sevilla, Sevilla, Spain ;17.John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK ; |
| Abstract: | Journal of Neurology - TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate of... |
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