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Article

Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation.

Neuromuscular disorders : NMD - 1 Sept 2020

Claeys Thomas, Goosens Veerle, Racé Valérie, Theys Tom, Thal Dietmar R, Depuydt Christophe E, Claeys Kristl G

Abstract excerpt

Heterozygous mutations in the stromal interaction molecule-1-gene (STIM1) cause a clinical phenotype varying from tubular aggregate myopathy with single or multiple signs of Stormorken syndrome to the full Stormorken phenotype. We identified a novel heterozygous mutation c.325C > T (p.H109Y) in the EF-hand domain of STIM1 in six patients of a large Belgian family, and performed a detailed clinical (N = 6),...

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Identifiers

PMID: 32893083
DOI: 10.1016/j.nmd.2020.07.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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