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Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.
Galleni Leão, Leonardo; Santos Souza, Lucas; Nogueira, Letícia; Pavanello, Rita de Cássia Mingroni; Gurgel-Giannetti, Juliana; Reed, Umbertina C; Oliveira, Acary S B; Cuperman, Thais; Cotta, Ana; FPaim, Julia; Zatz, Mayana; Vainzof, Mariz.
Afiliación
  • Galleni Leão L; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, Brazil.
  • Santos Souza L; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, Brazil.
  • Nogueira L; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, Brazil.
  • Pavanello RCM; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, Brazil.
  • Gurgel-Giannetti J; Depart of Pediatrics, Medical School of Federal University of Minas Gerais, Belo Horizonte, MG, Brazil.
  • Reed UC; Department of Neurology, Medical School of the University of Sao Paulo, São Paulo, Brazil.
  • Oliveira ASB; Department of Neurology and Neurosurgery, Division of Neuromuscular Disorders, Federal University of São Paulo (Unifesp), São Paulo SP, Brazil.
  • Cuperman T; Department of Neurology and Neurosurgery, Division of Neuromuscular Disorders, Federal University of São Paulo (Unifesp), São Paulo SP, Brazil.
  • Cotta A; Department of Pathology SARAH Network of Rehabilitation Hospitals, Belo Horizonte, MG, Brazil.
  • FPaim J; Department of Pathology SARAH Network of Rehabilitation Hospitals, Belo Horizonte, MG, Brazil.
  • Zatz M; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, Brazil.
  • Vainzof M; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, Brazil.
Acta Myol ; 39(4): 274-282, 2020 Dec.
Article en En | MEDLINE | ID: mdl-33458582
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Canal Liberador de Calcio Receptor de Rianodina / Miopatía del Núcleo Central / Patrón de Herencia / Mutación Tipo de estudio: Prognostic_studies País/Región como asunto: America do sul / Brasil Idioma: En Revista: Acta Myol Asunto de la revista: CARDIOLOGIA / FISIOLOGIA Año: 2020 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Canal Liberador de Calcio Receptor de Rianodina / Miopatía del Núcleo Central / Patrón de Herencia / Mutación Tipo de estudio: Prognostic_studies País/Región como asunto: America do sul / Brasil Idioma: En Revista: Acta Myol Asunto de la revista: CARDIOLOGIA / FISIOLOGIA Año: 2020 Tipo del documento: Article