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Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course.
Croci, Carolina; Traverso, Monica; Baratto, Serena; Iacomino, Michele; Pedemonte, Marina; Caroli, Francesco; Scala, Marcello; Bruno, Claudio; Fiorillo, Chiara.
Afiliação
  • Croci C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child (DINOGMI), University of Genoa, Genoa Italy.
  • Traverso M; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto "G. Gaslini", Genoa Italy.
  • Baratto S; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto "G. Gaslini", Genoa Italy.
  • Iacomino M; Medical Genetics Unit, IRCCS Istituto "G. Gaslini", Genoa, Italy.
  • Pedemonte M; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto "G. Gaslini", Genoa Italy.
  • Caroli F; Medical Genetics Unit, IRCCS Istituto "G. Gaslini", Genoa, Italy.
  • Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child (DINOGMI), University of Genoa, Genoa Italy.
  • Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto "G. Gaslini", Genoa, Ital.
  • Fiorillo C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child (DINOGMI), University of Genoa, Genoa Italy.
Acta Myol ; 41(3): 111-116, 2022.
Article em En | MEDLINE | ID: mdl-36349186
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos de Deglutição / Doenças Musculares / Miotonia Congênita Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Revista: Acta Myol Assunto da revista: CARDIOLOGIA / FISIOLOGIA Ano de publicação: 2022 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: Transtornos de Deglutição / Doenças Musculares / Miotonia Congênita Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Revista: Acta Myol Assunto da revista: CARDIOLOGIA / FISIOLOGIA Ano de publicação: 2022 Tipo de documento: Article