Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
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DOI: 10.1016/j.nmd.2016.10.006
Abstract: STIM1 is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Missense mutations in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome,… read more here.
Keywords: aggregate myopathy; mutation; features stormorken; stim1 mutation ... See more keywords