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Article

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Neuromuscular disorders : NMD - 1 Sept 2017

Harris Elizabeth, Burki Umar, Marini-Bettolo Chiara, Neri Marcella, Scotton Chiara, Hudson Judith, Bertoli Marta, Evangelista Teresinha, Vroling Bas, Polvikoski Tuomo, Roberts Mark, Töpf Ana, Bushby Kate, McArthur Daniel, Lochmüller Hanns, Ferlini Alessandra, Straub Volker, Barresi Rita

Abstract excerpt

Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome. Previous reports have suggested a genotype-phenotype correlation with mutations in the N-terminal EF-hand domain associated with tubular...

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Source

Identifiers

PMID: 28624464
DOI: 10.1016/j.nmd.2017.05.002

Genes

STIM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.PMID 28624464Read ↗

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