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Article

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

Journal of neurology - 1 May 2014

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 excerpt

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 mut...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24570283
DOI: 10.1007/s00415-014-7287-x

Genes

STIM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24570283-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.Semantic proximity Read ↗

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