Condition: MYOPATHY, TUBULAR AGGREGATE, 1


rs140253806 in CASQ1 gene and MYOPATHY, TUBULAR AGGREGATE, 1 PMID 28895244 2017 Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.

rs397514675 in STIM1 gene and MYOPATHY, TUBULAR AGGREGATE, 1 PMID 23332920 2013 Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

PMID 25326555 2014 Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

PMID 25953320 2015 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.

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