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6. Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Author

Institut Català de la Salut, [Domínguez-González C] Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain. Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Hernández-Laín A] Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Rivas E] Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. [Hernández-Voth A, Sayas Catalán J] Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Fernández-Torrón R] Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain. [García Arumi E] Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Grup de recerca en Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain., and Hospital Universitari Vall d'Hebron

Subjects
Enzimas y Coenzimas::Enzimas::Transferasas::Fosfotransferasas::Fosfotransferasas (Aceptor de Grupo Alcohol)::Timidina Quinasa [COMPUESTOS QUÍMICOS Y DROGAS], Músculs - Malalties - Aspectes genètics, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Mutació (Biologia), Other subheadings::Other subheadings::/genetics [Other subheadings], Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Late Onset Disorders [DISEASES], Enfermedades del Sistema Nervioso::Enfermedades Neuromusculares::Enfermedades Musculares::Miopatías Mitocondriales [ENFERMEDADES], Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Thymidine Kinase [CHEMICALS AND DRUGS], afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::trastornos de aparición tardía [ENFERMEDADES], Timidina, Musculoskeletal Diseases::Muscular Diseases::Mitochondrial Myopathies [DISEASES]
Published
2021

7. Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Author

Elena García Arumí, Bosco Méndez-Ferrer, Roberto Fernández-Torrón, Miguel A. Martín, Alberto Blázquez Encinar, Javier Sayas Catalán, Marti Ramon, Carmen Paradas, Germán Morís, Montse Olivé, Cecilia Jimenez-Mallebrera, Cristina Domínguez-González, Candela Caballero, Jorge García García, Jordi Díaz-Manera, Carmen Fuiza-Luces, María Carmen Badosa, Jesús Esteban, Aurelio Hernández-Laín, Joaquín Arenas, Michio Hirano, Ana Hernández-Voth, Frances Miralles, Eloy Rivas, [Dominguez-Gonzalez,C, Esteban,J] Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Dominguez-Gonzalez,C, Fuiza-Luces,C, Esteban,J, Blazquez Encinar,A, Arenas,J, Martin,MA] Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain. [Dominguez-Gonzalez,C, Díaz-Manera,J, Martí,C, García Arumi,E, Jimenez-Mallebrera,C, Martin,MA] Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Hernández-Laín,A] Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Rivas,E] Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. [Hernández-Voth,A, Sayas Catalán,J] Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Fernández-Torrón,R] Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain. [Fuiza-Luces,C, Martin,MA] Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital '12 de Octubre' ('i+12'), Madrid, Spain. [García García,J] Neurology Department, Hospital de Albacete, Albacete, Spain. [Morís,G] Neurology Department, Neuromuscular disorders Unit, Hospital Central de Asturias, Oviedo, Spain. [Olivé,M] Pathological Anatomy Department, Neuromuscular disorders unit, IDIBELL-Hospital de Bellvitge, Barcelona, Spain. [Miralles,F] Neurology department, Neuromuscular disorders unit, Hospital Universitari Son Espases, Palma, Spain. [Díaz-Manera,J] Neurology department, Neuromuscular disorders unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. [Caballero,C] Respiratory Department, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, CIBERES, Universidad de Sevilla, Sevilla, Spain. [Méndez-Ferrer,B] Rehabilitation Department, Hospital Virgen del Rocio, Sevilla, Spain. [Martí,R, Badosa,MC, Jimenez-Mallebrera,C] Neuromuscular Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain. [García Arumi,E] Research group on Neuromuscular and Mitochondrial Diseases, Valld'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain. [Hirano,M] Department of Neurology, H. Houston Merritt Center, Columbia University Medical Center, New York, USA. [Paradas,C] Neurology Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. [Paradas,C] Biomedical Network Research Centre on Neurodegenerative Diseases (CIBERNED), Madrid, Spain., This work was supported by research grants of Plan Nacional de I + D + I and Instituto de Salud Carlos III (ISCIII), Subdirección General de Evaluación y Fomento de la Investigación Sanitaria', project PI16–01843 (CP), PI16/00579 and CP09/00011 for CJM and the European Regional Development Fund (FEDER a way to achieve Europe). MAM has received funding from the Spanish ISCIII (grant PI 15/00431). A multicentric grant funded by the ISCIII (PMP15/00025 to MAM, RM, MO, CP)., Instituto de Biomedicina de Sevilla (IBIS), Institut Català de la Salut, [Domínguez-González C] Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain. Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Hernández-Laín A] Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Rivas E] Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. [Hernández-Voth A, Sayas Catalán J] Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Fernández-Torrón R] Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain. [García Arumi E] Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Grup de recerca en Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain., Vall d'Hebron Barcelona Hospital Campus, Instituto de Salud Carlos III, European Commission, and Ministerio de Economía y Competitividad (España)

Subjects
0301 basic medicine, Male, Pathology, Diseases::Musculoskeletal Diseases::Muscular Diseases [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies::Retrospective Studies [Medical Subject Headings], humanos, ADN, Multiple deletions, lcsh:Medicine, adolescente, afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::trastornos de aparición tardía [ENFERMEDADES], miopatías mitocondriales, ADN mitocondrial, 030105 genetics & heredity, DNA, mitochondrial, Mitocondris, Late Onset Disorders, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], 0302 clinical medicine, Ptosis, Mitochondrial myopathy, Pharmacology (medical), Respiratory system, Child, Genetics (clinical), mediana edad, enfermedades musculares, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Mitochondrial Myopathies, Anatomy::Musculoskeletal System::Muscles::Muscle, Skeletal [Medical Subject Headings], General Medicine, adulto, Middle Aged, Musculoskeletal Diseases::Muscular Diseases::Mitochondrial Myopathies [DISEASES], Mitochondria, adulto joven, Gene delention, Músculs - Malalties - Aspectes genètics, TK2 deficiency, Female, Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Thymidine Kinase [CHEMICALS AND DRUGS], medicine.symptom, Persons::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings], Adult, Weakness, medicine.medical_specialty, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings], Adolescent, Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Late Onset Disorders [DISEASES], Check Tags::Male [Medical Subject Headings], Late onset, macromolecular substances, Timidina, Mitochondrial depletion, DNA, Mitochondrial, Thymidine Kinase, Persons::Persons::Age Groups::Adolescent [Medical Subject Headings], 03 medical and health sciences, Young Adult, Muscular Diseases, Eliminación de gen, medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Persons::Persons::Age Groups::Child [Medical Subject Headings], Muscle, Skeletal, Persons::Persons::Age Groups::Adult [Medical Subject Headings], mutación, Malalties musculars, Retrospective Studies, Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Circular::DNA, Mitochondrial [Medical Subject Headings], business.industry, Research, lcsh:R, estudios retrospectivos, Mutació (Biologia), Muscle weakness, Persons::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings], DNA, medicine.disease, Timidina quinasa, timidina cinasa, enfermedades del sistema nervioso::enfermedades neuromusculares::enfermedades musculares::miopatías mitocondriales [ENFERMEDADES], Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Thymidine Kinase [Medical Subject Headings], Check Tags::Female [Medical Subject Headings], Thymidine kinase, Miopatías mitocondriales, enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::timidina cinasa [COMPUESTOS QUÍMICOS Y DROGAS], Mutation, Diseases::Musculoskeletal Diseases::Muscular Diseases::Mitochondrial Myopathies [Medical Subject Headings], business, 030217 neurology & neurosurgery
Abstract

[Background] TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity., [Methods] We describe 18 patients with mitochondrial myopathy due to mutations in the TK2 gene with absence of clinical symptoms until the age of 12., [Results] The mean age of onset was 31 years. The first symptom was muscle limb weakness in 10/18, eyelid ptosis in 6/18, and respiratory insufficiency in 2/18. All patients developed variable muscle weakness during the evolution of the disease. Half of patients presented difficulty in swallowing. All patients showed evidence of respiratory muscle weakness, with need for non-invasive Mechanical Ventilation in 12/18. Four patients had deceased, all of them due to respiratory insufficiency. We identified common radiological features in muscle magnetic resonance, where the most severely affected muscles were the gluteus maximus, semitendinosus and sartorius. On muscle biopsies typical signs of mitochondrial dysfunction were associated with dystrophic changes. All mutations identified were previously reported, being the most frequent the in-frame deletion p.Lys202del. All cases showed multiple mtDNA deletions but mtDNA depletion was present only in two patients., [Conclusions] The late-onset is the less frequent form of presentation of the TK2 deficiency and its natural history is not well known. Patients with late onset TK2 deficiency have a consistent and recognizable clinical phenotype and a poor prognosis, due to the high risk of early and progressive respiratory insufficiency., This work was supported by research grants of Plan Nacional de I + D + I and Instituto de Salud Carlos III (ISCIII), Subdirección General de Evaluación y Fomento de la Investigación Sanitaria”, project PI16–01843 (CP), PI16/00579 and CP09/00011 for CJM and the European Regional Development Fund (FEDER a way to achieve Europe). MAM has received funding from the Spanish ISCIII (grant PI 15/00431). A multicentric grant funded by the ISCIII (PMP15/00025 to MAM, RM, MO, CP).

Published
2019

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