Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Carola Hedberg, Marcello Niceta, Fabiana Fattori, Björn Lindvall, Andrea Ciolfi, Adele D'Amico, Giorgio Tasca, Stefania Petrini, Mar Tulinius, Marco Tartaglia, Anders Oldfors, Enrico Bertini

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)870-876
Number of pages7
JournalJournal of Neurology
Volume261
Issue number5
DOIs
Publication statusPublished - 2014

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Keywords

  • De novo mutation
  • Myopathy
  • STIM1
  • Tubular aggregates

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

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