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Article

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

American journal of human genetics - 7 Feb 2013

Böhm Johann, Chevessier Frédéric, Maues De Paula André, Koch Catherine, Attarian Shahram, Feger Claire, Hantaï Daniel, Laforêt Pascal, Ghorab Karima, Vallat Jean-Michel, Fardeau Michel, Figarella-Branger Dominique, Pouget Jean, Romero Norma B, Koch Marc, Ebel Claudine, Levy Nicolas, Krahn Martin, Eymard Bruno, Bartoli Marc, Laporte Jocelyn

Abstract excerpt

Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced myopathies, exercise-induced cramps, and inherited myasthenia, but also exist as a pure genetic form characterized by slowly progressive muscle weakness. We identified dominant STIM1 mutations as a genetic cause of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23332920
DOI: 10.1016/j.ajhg.2012.12.007
PMCID: PMC3567276

Genes

STIM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.PMID 23332920Read ↗

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