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Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.
Restrepo-Vera, Juan Luis; Muñoz-Cabello, Patricia; Pérez-Rodon, Jordi; Rovira-Moreno, Eulàlia; Codina-Solà, Marta; Llauradó, Arnau; Salvadó, Maria; Sánchez-Tejerina, Daniel; Sotoca, Javier; Martínez-Sáez, Elena; García-Arumí, Elena; Juntas-Morales, Raul.
Afiliação
  • Restrepo-Vera JL; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain.
  • Muñoz-Cabello P; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona 08035, Spain.
  • Pérez-Rodon J; Department of Cardiology, Hospital Universitari Vall d'Hebrón, Universitat Autònoma de Barcelona, Vall d'Hebrón Institut de Recerca, CIBER-CV, Barcelona, Spain.
  • Rovira-Moreno E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona 08035, Spain.
  • Codina-Solà M; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona 08035, Spain.
  • Llauradó A; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain.
  • Salvadó M; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain.
  • Sánchez-Tejerina D; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain.
  • Sotoca J; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain.
  • Martínez-Sáez E; Department of Pathology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain.
  • García-Arumí E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Rese
  • Juntas-Morales R; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain. Electronic address: rjuntas@vhebron.net.
Neuromuscul Disord ; 33(6): 463-467, 2023 06.
Article em En | MEDLINE | ID: mdl-37119590
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rabdomiólise / Deficiência Intelectual / Doenças Musculares Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha País de publicação: Reino Unido
Texto completo
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Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rabdomiólise / Deficiência Intelectual / Doenças Musculares Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha País de publicação: Reino Unido