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...
Main Authors: | , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2018-10-01
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Series: | Frontiers in Neurology |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fneur.2018.00859/full |