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A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.
Gurgel-Giannetti, Juliana; Souza, Lucas Santos; Messina de Pádua Andrade, Guilherme Ferraz; Derlene, Maria de Fátima; Meira, Zilda Maria Alves; Azevedo, Beatriz Vilela Morais; Jr, Wilson Campos; Diniz, Sabrina Stephanie Lana; Carvalhais, Marina Belisario; Oliveira, Juliana Rodrigues Soares; Uliana, Livia; Bráulio, Renato; Costa, Paulo Henrique Nogueira; Filho, Geraldo Brasileiro; Vainzof, Mariz.
Afiliação
  • Gurgel-Giannetti J; Department of Pediatrics, Service of Neuropediatrics from Federal University of Minas Gerais, Brazil Rua Herculano de Freitas, 905 apt 1302 Bairro Gutierrez, Belo Horizonte, Brazil. Electronic address: gurgelju@yahoo.com.br.
  • Souza LS; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center from University of São Paulo, Brazil.
  • Messina de Pádua Andrade GF; Department of Clinics, Service of cardiology and cardiovascular Surgery from Federal University of Minas Gerais, Brazil.
  • Derlene MF; Department of Pediatrics, Service of Pediatric Cardiology from Federal University of Minas Gerais, Brazil.
  • Meira ZMA; Department of Pediatrics, Service of Pediatric Cardiology from Federal University of Minas Gerais, Brazil.
  • Azevedo BVM; Department of Pediatrics, Service of Neuropediatrics from Federal University of Minas Gerais, Brazil Rua Herculano de Freitas, 905 apt 1302 Bairro Gutierrez, Belo Horizonte, Brazil.
  • Jr WC; Department of Radiology, Hospital Mater Dei Contorno, Belo Horizonte, Brazil.
  • Diniz SSL; Department of Pediatrics, Service of Neuropediatrics from Federal University of Minas Gerais, Brazil Rua Herculano de Freitas, 905 apt 1302 Bairro Gutierrez, Belo Horizonte, Brazil.
  • Carvalhais MB; Department of Pediatrics, Service of Neuropediatrics from Federal University of Minas Gerais, Brazil Rua Herculano de Freitas, 905 apt 1302 Bairro Gutierrez, Belo Horizonte, Brazil.
  • Oliveira JRS; Department of Clinics, Service of cardiology and cardiovascular Surgery from Federal University of Minas Gerais, Brazil.
  • Uliana L; Department of Pediatrics, Service of Neuropediatrics from Federal University of Minas Gerais, Brazil Rua Herculano de Freitas, 905 apt 1302 Bairro Gutierrez, Belo Horizonte, Brazil.
  • Bráulio R; Department of Clinics, Service of cardiology and cardiovascular Surgery from Federal University of Minas Gerais, Brazil.
  • Costa PHN; Department of Clinics, Service of cardiology and cardiovascular Surgery from Federal University of Minas Gerais, Brazil.
  • Filho GB; Department of Pathology, Federal University of Minas Gerais, Brazil.
  • Vainzof M; Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center from University of São Paulo, Brazil.
Neuromuscul Disord ; 31(11): 1199-1206, 2021 11.
Article em En | MEDLINE | ID: mdl-34742623
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Transplante de Coração / Proteínas Serina-Treonina Quinases / Proteínas Musculares / Mutação / Miotonia Congênita Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País como assunto: America do sul / Brasil Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Transplante de Coração / Proteínas Serina-Treonina Quinases / Proteínas Musculares / Mutação / Miotonia Congênita Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País como assunto: America do sul / Brasil Idioma: En Ano de publicação: 2021 Tipo de documento: Article