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Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene.
Codron, P; Pautot, V; Tassin, A; Sternberg, D; Letournel, F; Richard, P; Nadaj-Pakleza, A.
Afiliação
  • Codron P; Department of neurology, neuromuscular center Atlantique-Occitanie-Caraïbes, university hospital of Angers, 4, rue Larrey, 49933 Angers cedex 9, France; Department of neurobiology and neuropathology, university hospital of Angers, 4, rue Larrey, 49933 Angers cedex 9, France; UMR CNRS 6015-Inserm U10
  • Pautot V; Department of neurology, neuromuscular center Atlantique-Occitanie-Caraïbes, university hospital of Angers, 4, rue Larrey, 49933 Angers cedex 9, France.
  • Tassin A; Department of cardiology, university hospital of Angers, 4, rue Larrey, 49933 Angers cedex 9, France.
  • Sternberg D; Inserm U582, department of biochemistry, cardiomyogenetics, university hospital Pitié-Salpêtrière, AP-HP, Paris, France.
  • Letournel F; Department of neurobiology and neuropathology, university hospital of Angers, 4, rue Larrey, 49933 Angers cedex 9, France.
  • Richard P; Inserm U582, department of biochemistry, cardiomyogenetics, university hospital Pitié-Salpêtrière, AP-HP, Paris, France.
  • Nadaj-Pakleza A; Department of neurology, neuromuscular center Atlantique-Occitanie-Caraïbes, university hospital of Angers, 4, rue Larrey, 49933 Angers cedex 9, France.
Rev Neurol (Paris) ; 175(3): 201-203, 2019 Mar.
Article em En | MEDLINE | ID: mdl-30527948
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo IIb / Proteína 2 de Membrana Associada ao Lisossomo / Miocárdio Ventricular não Compactado Isolado / Mutação / Miotonia Limite: Adult / Humans / Male Idioma: En Revista: Rev Neurol (Paris) Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo IIb / Proteína 2 de Membrana Associada ao Lisossomo / Miocárdio Ventricular não Compactado Isolado / Mutação / Miotonia Limite: Adult / Humans / Male Idioma: En Revista: Rev Neurol (Paris) Ano de publicação: 2019 Tipo de documento: Article