Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
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
Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.522513
Abstract: Objective: To identify the gene mutation of Stormorken syndrome and review the published Stromal Interaction Molecule 1 (STIM1) mutation phenotype. Methods: We described the clinical and molecular aspects of a Chinese female with Stormorken syndrome… read more here.
Keywords: novel stim1; syndrome caused; stormorken syndrome; caused novel ... See more keywords