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Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
Panadés-de Oliveira, Luísa; Rodríguez-López, Claudia; Cantero Montenegro, Diana; Marcos Toledano, María Del Mar; Fernández-Marmiesse, Ana; Esteban Pérez, Jesús; Hernández Lain, Aurelio; Domínguez-González, Cristina.
Afiliação
  • Panadés-de Oliveira L; Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain. lupanades@gmail.com.
  • Rodríguez-López C; Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Cantero Montenegro D; Department of Neuropathology, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Marcos Toledano MDM; Department of Neurology, Hospital Universitario de Badajoz, Badajoz, Spain.
  • Fernández-Marmiesse A; Centro de Investigación en Enfermedades Crónicas (CIMUS)-Grupo de Genomas y Enfermedad P2L9, Universidad de Santiago de Compostela, Santiago de Compostela, Spain.
  • Esteban Pérez J; Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Hernández Lain A; Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Domínguez-González C; Department of Neuropathology, Hospital Universitario 12 de Octubre, Madrid, Spain.
J Neurol ; 266(4): 934-941, 2019 Apr.
Article em En | MEDLINE | ID: mdl-30706156
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Contratura / Distrofias Musculares / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Contratura / Distrofias Musculares / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Neurol Ano de publicação: 2019 Tipo de documento: Article