Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features
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DOI: 10.1177/0883073819829389
Abstract: Stormorken syndrome is a rare genetic disorder (MIM 185070) first reported in 1983 with thrombocytopenia, muscle weakness, asplenia, and miosis caused by a mutation of the stromal interaction molecule 1 (STIM1) gene.1 The muscle weakness… read more here.
Keywords: myopathy tubular; tubular aggregates; syndrome rare; muscle ... See more keywords