Condition: Tubular Aggregate Myopathy


rs483352867 in STIM1 gene and Tubular Aggregate Myopathy PMID 25577287 2015 York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

PMID 25044882 2014 Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

PMID 24619930 2014 A dominant STIM1 mutation causes Stormorken syndrome.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 24591628 2014 Here, we identify gain-of-function mutations in the cytoplasmic domain of STIM1 (p.R304W) associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with Stormorken syndrome, and in ORAI1 (p.P245L), associated with a Stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities.

PMID 24570283 2014 Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.