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Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Bermejo-Guerrero, Laura; de Fuenmayor Fernández-de la Hoz, Carlos Pablo; González-Quereda, Lidia; Segarra-Casas, Alba; Nedkova, Velina; Gallano, Pia; Martín-Jiménez, Paloma; Hernández-Laín, Aurelio; Olivé, Montse; Arteche-López, Ana; Domínguez-González, Cristina.
Afiliação
  • Bermejo-Guerrero L; Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • de Fuenmayor Fernández-de la Hoz CP; Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • González-Quereda L; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Genetics and Microbiology Department, Universitat Auton
  • Segarra-Casas A; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Genetics and Microbiology Department, Universitat Autonoma de Barcelona, Bellaterra, Spain.
  • Nedkova V; Department of Neurology, Bellvitge Hospital, 08041 Barcelona, Spain.
  • Gallano P; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Martín-Jiménez P; Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Hernández-Laín A; Department of Neuropathology, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Olivé M; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Neuromuscular Diseases Unit, Neurology Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
  • Arteche-López A; Department of Genetics, 12 de Octubre University Hospital, 28041 Madrid, Spain.
  • Domínguez-González C; Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Rese
Neuromuscul Disord ; 33(12): 983-987, 2023 Dec.
Article em En | MEDLINE | ID: mdl-38016875
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Distais / Doenças Musculares Limite: Adult / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Distais / Doenças Musculares Limite: Adult / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha