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

Journal article
Authors 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
Published in Journal of neurology
Volume 261
Issue 5
Pages 870-6
ISSN 1432-1459
Publication year 2014
Published at Institute of Biomedicine, Department of Pathology
Institute of Clinical Sciences, Department of Pediatrics
Pages 870-6
Language en
Links dx.doi.org/10.1007/s00415-014-7287-...
Subject categories Pediatrics

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.

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