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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Bibliographic Details
Main Authors: Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta
Format: Article
Language:English
Published: Wiley 2018-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2018/6184185
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