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Lookup NU author(s): Professor Giorgio TascaORCiD
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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. © 2014 Springer-Verlag.
Author(s): Hedberg C, Niceta M, Fattori F, Lindvall B, Ciolfi A, D'Amico A, Tasca G, Petrini S, Tulinius M, Tartaglia M, Oldfors A, Bertini E
Publication type: Article
Publication status: Published
Journal: Journal of Neurology
Year: 2014
Volume: 261
Issue: 5
Pages: 870-876
Print publication date: 01/05/2014
Online publication date: 26/02/2014
Acceptance date: 12/02/2014
ISSN (print): 0340-5354
ISSN (electronic): 1432-1459
Publisher: Dr. Dietrich Steinkopff Verlag GmbH and Co. KG
URL: https://doi.org/10.1007/s00415-014-7287-x
DOI: 10.1007/s00415-014-7287-x
PubMed id: 24570283
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