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A Rare Case of Severe Congenital RYR1-Associated Myopathy

Congenital myopathies are a group of rare inherited diseases, defined by hypotonia and muscle weakness. We report clinical and genetic characteristics of a male preterm newborn, whose phenotype was characterized by severe hypotonia and hyporeactivity, serious respiratory distress syndrome that requi...

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Detalles Bibliográficos
Autores principales:	Laforgia, Nicola, Capozza, Manuela, De Cosmo, Lucrezia, Di Mauro, Antonio, Baldassarre, Maria Elisabetta, Mercadante, Francesca, Torella, Anna Laura, Nigro, Vincenzo, Resta, Nicoletta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092990/ https://www.ncbi.nlm.nih.gov/pubmed/30155320 http://dx.doi.org/10.1155/2018/6184185

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