Stromal Interaction Molecule 1 (STIM1) is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Autosomal dominant mutations in STIM1 cause tubular aggregate myopathy and Stormorken syndrome or its variant York platelet syndrome. We aimed to expand the features related to new variants in STIM1.

Expanding the clinical and genetic spectrum of pathogenic variants in STIM1

Vattemi, Gaetano;Guglielmi, Valeria;Tonin, Paola;
2021

Abstract

Stromal Interaction Molecule 1 (STIM1) is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Autosomal dominant mutations in STIM1 cause tubular aggregate myopathy and Stormorken syndrome or its variant York platelet syndrome. We aimed to expand the features related to new variants in STIM1.
STIM1
Stormorken syndrome
Tubular aggregate myopathy
muscle imaging
next-generation sequencing
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/1047300
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