对TK2缺乏症患者的临床和遗传分析

Francisco Ceballos¹, Pablo Serrano-Lorenzo¹, Laura Bermejo-Guerrero¹+17

• ¹From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.