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Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations
Univ Gothenburg, Sahlgrenska Univ Hosp, Dept Pathol, Gothenburg, Sweden..
Bambino Gesu Childrens Res Hosp, Unit Neuromuscular Disorders, Mol Med Lab, I-00165 Rome, Italy..
Bambino Gesu Childrens Res Hosp, Unit Neuromuscular Disorders, Mol Med Lab, I-00165 Rome, Italy..ORCID iD: 0000-0002-1820-8489
Orebro University Hospital. Department of Neurology, Muscle Centre.
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2014 (English)In: Journal of Neurology, ISSN 0340-5354, E-ISSN 1432-1459, Vol. 261, no 5, 870-876 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Springer, 2014. Vol. 261, no 5, 870-876 p.
Keyword [en]
Myopathy, Tubular aggregates, STIM1, De novo mutation
National Category
Neurology
Identifiers
URN: urn:nbn:se:oru:diva-56434DOI: 10.1007/s00415-014-7287-xISI: 000335772500003PubMedID: 24570283ScopusID: 2-s2.0-84901941218OAI: oai:DiVA.org:oru-56434DiVA: diva2:1082343
Funder
Swedish Research Council, 7122
Note

Funding Agencies:

Italian Ministry of Health Ricerca Finalizzata

Italian Ministry of Health Ricerca Corrente

Available from: 2017-03-16 Created: 2017-03-16 Last updated: 2017-03-16Bibliographically approved

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