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Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.
Scarpelli, Mauro; Carreño-Gago, Lidia; Russignan, Anna; de Luna, Noemi; Carnicer-Cáceres, Clara; Ariatti, Alessandra; Verriello, Lorenzo; Devigili, Grazia; Tonin, Paola; Garcia-Arumi, Elena; Pinós, Tomàs.
Afiliação
  • Scarpelli M; Section of Neurology, Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy.
  • Carreño-Gago L; Mitochondrial Disorders Unit, Vall d'Hebron Institut de Recerca, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Russignan A; Section of Neurology, Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy.
  • de Luna N; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Laboratori de Malalties Neuromusculars, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain.
  • Carnicer-Cáceres C; Unidad de Metabolopatías, Servicio de Bioquímica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Ariatti A; Department of Neurosciences and Department of Onco-Haematology, University Hospitals of Modena & Reggio Emilia, Italy.
  • Verriello L; Division of Neurology, Department of Neuroscience, Azienda Ospedaliero Universitaria, Udine, Italy.
  • Devigili G; Division of Neurology, Department of Neuroscience, Azienda Ospedaliero Universitaria, Udine, Italy.
  • Tonin P; Section of Neurology, Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy.
  • Garcia-Arumi E; Mitochondrial Disorders Unit, Vall d'Hebron Institut de Recerca, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Àrea de Genètica Clínica i Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Electronic address: elena.garcia@vh
  • Pinós T; Mitochondrial Disorders Unit, Vall d'Hebron Institut de Recerca, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address: tomas.pinos@vhir.org.
Neuromuscul Disord ; 28(2): 137-143, 2018 02.
Article em En | MEDLINE | ID: mdl-29174468
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / RNA de Transferência de Metionina / RNA de Transferência de Lisina / Mutação Puntual / Miopatias Mitocondriais Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / RNA de Transferência de Metionina / RNA de Transferência de Lisina / Mutação Puntual / Miopatias Mitocondriais Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article