Article

Functional analyses of <i>STIM1</i> mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome

2019-06-06

Abstract excerpt

<h4>ABSTRACT</h4> Tubular aggregate myopathy (TAM) is a progressive disorder essentially involving muscle weakness, cramps, and myalgia. TAM clinically overlaps with Stormorken syndrome (STRMK), associating TAM with miosis, thrombocytopenia, hyposplenism, ichthyosis, short stature, and dyslexia. TAM and Stormorken syndrome arise from gain-of-function mutations in STIM1 or ORAI1 , both encoding key regulators of...

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Literature Corpus work: b792cce6-3508-59f7-a5d6-dce4e0b6aef4
DOI: 10.1101/663088

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