title: Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
abstract: We investigated three unrelated patients with tubular-aggregate myopathy and slowly progressive muscle weakness manifesting in the first years of life. All patients showed type 1 muscle fiber predominance and hypotrophy of type 2 fibers. Tubular aggregates were abundant. In all three patients mutations were identified in the gene STIM1, and the mutations were found to be de novo in all patients. In one of the patients the mutation was identified by exome sequencing. Two patients harbored the previously described mutation c.326A>G p.(His109Arg), while the third patient had a novel mutation c.343A>T p.(Ile115Phe). Taking our series together with previously published cases, the c.326A>G p.(His109Arg) seems to be a hotspot mutation that is characteristically related to early onset muscle weakness.
authors.affiliation: Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
authors.forename: Carola
authors.initials: C
authors.lastname: Hedberg
authors.forename: Marcello
authors.initials: M
authors.lastname: Niceta
authors.forename: Fabiana
authors.initials: F
authors.lastname: Fattori
authors.forename: Björn
authors.initials: B
authors.lastname: Lindvall
authors.forename: Andrea
authors.initials: A
authors.lastname: Ciolfi
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Giorgio
authors.initials: G
authors.lastname: Tasca
authors.forename: Stefania
authors.initials: S
authors.lastname: Petrini
authors.forename: Mar
authors.initials: M
authors.lastname: Tulinius
authors.forename: Marco
authors.initials: M
authors.lastname: Tartaglia
authors.forename: Anders
authors.initials: A
authors.lastname: Oldfors
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis* / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D000071737:Stromal Interaction Molecule 1
chemical_list: D008565:Membrane Proteins; D009363:Neoplasm Proteins; C103530:STIM1 protein, human; D000071737:Stromal Interaction Molecule 1