Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature

Stormorken syndrome is a rare autosomal dominant disease that is characterized by a complex phenotype that includes tubular aggregate myopathy (TAM), bleeding diathesis, hyposplenism, mild hypocalcemia and additional features, such as miosis and a mild intellectual disability (dyslexia). Stormorken...

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Detalles Bibliográficos
Autores principales: Borsani, Oscar, Piga, Daniela, Costa, Stefania, Govoni, Alessandra, Magri, Francesca, Artoni, Andrea, Cinnante, Claudia M., Fagiolari, Gigliola, Ciscato, Patrizia, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo P., Corti, Stefania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196270/
https://www.ncbi.nlm.nih.gov/pubmed/30374325
http://dx.doi.org/10.3389/fneur.2018.00859

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