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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Oscar Borsani, Daniela Piga, Stefania Costa, Alessandra Govoni, Francesca Magri, Andrea Artoni, Claudia M. Cinnante, Gigliola Fagiolari, Patrizia Ciscato, Maurizio Moggio, Nereo Bresolin, Giacomo P. Comi, Stefania Corti
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2018-10-01
Schriftenreihe:Frontiers in Neurology
Schlagworte:
stormorken syndrome
STIM1
tubular aggregate myopathy
muscle
myopathy
Online-Zugang:https://www.frontiersin.org/article/10.3389/fneur.2018.00859/full
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