Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
E Harris, U Burki, C Marini-Bettolo, M Neri… - Neuromuscular …, 2017 - Elsevier
Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate
myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism,
hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet
syndrome. Previous reports have suggested a genotype–phenotype correlation with
mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy,
and a common mutation at p. R304W in a coiled coil domain associated with Stormorken …
myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism,
hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet
syndrome. Previous reports have suggested a genotype–phenotype correlation with
mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy,
and a common mutation at p. R304W in a coiled coil domain associated with Stormorken …