Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation
Heterozygous mutations in the stromal interaction molecule-1-gene (STIM1) cause a clinical
phenotype varying from tubular aggregate myopathy with single or multiple signs of
Stormorken syndrome to the full Stormorken phenotype. We identified a novel heterozygous
mutation c. 325C> T (p. H109Y) in the EF-hand domain of STIM1 in six patients of a large
Belgian family, and performed a detailed clinical (N= 6), histopathological (N= 2) and whole-
body muscle MRI (N= 3) study. The clinical phenotype was characterized by a slowly …
phenotype varying from tubular aggregate myopathy with single or multiple signs of
Stormorken syndrome to the full Stormorken phenotype. We identified a novel heterozygous
mutation c. 325C> T (p. H109Y) in the EF-hand domain of STIM1 in six patients of a large
Belgian family, and performed a detailed clinical (N= 6), histopathological (N= 2) and whole-
body muscle MRI (N= 3) study. The clinical phenotype was characterized by a slowly …