A dominant STIM1 mutation causes Stormorken syndrome.

  title={A dominant STIM1 mutation causes Stormorken syndrome.},
  author={Doriana Misceo and Asbj\orn Holmgren and William E. Louch and P A Holme and Masahiro Mizobuchi and Raul Juntas Morales and Andr{\'e} Maues de Paula and Asbj\org Stray-Pedersen and Robert Lyle and Bj\orn Dalhus and Geir Christensen and Helge Stormorken and Geir Erland Tj\onnfjord and Eirik Frengen},
  journal={Human mutation},
  volume={35 5},
Stormorken syndrome is a rare autosomal-dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. A heterozygous missense mutation in STIM1 exon 7 (c.910C>T; p.Arg304Trp) (NM_003156.3) was found to segregate with the disease in six Stormorken syndrome patients in four families. Upon sensing Ca(2+) depletion in the endoplasmic reticulum lumen, STIM1 undergoes a conformational change… CONTINUE READING
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