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- Title
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
- Authors
Hedberg, Carola; Niceta, Marcello; Fattori, Fabiana; Lindvall, Björn; Ciolfi, Andrea; D'Amico, Adele; Tasca, Giorgio; Petrini, Stefania; Tulinius, Mar; Tartaglia, Marco; Oldfors, Anders; Bertini, Enrico
- 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.
- Subjects
MUSCLE weakness; MUSCLE diseases; GENETIC mutation; MUSCULOSKELETAL system diseases; NEUROMUSCULAR diseases
- Publication
Journal of Neurology, 2014, Vol 261, Issue 5, p870
- ISSN
0340-5354
- Publication type
Article
- DOI
10.1007/s00415-014-7287-x