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Article

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

Neuromuscular disorders : NMD - 1 Nov 2015

Tasca Giorgio, D'Amico Adele, Monforte Mauro, Nadaj-Pakleza Aleksandra, Vialle Marc, Fattori Fabiana, Vissing John, Ricci Enzo, Bertini Enrico

Abstract excerpt

Tubular aggregate myopathy is a genetically heterogeneous disease characterized by tubular aggregates as the hallmark on muscle biopsy. Mutations in STIM1 have recently been identified as one genetic cause in a number of tubular aggregate myopathy cases. To characterize the pattern of muscle involvement in this disease, upper and lower girdles and lower limbs were imaged in five patients with mutations in STIM1,...

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Source

Open in PubMed Open full text

Identifiers

PMID: 26255678
DOI: 10.1016/j.nmd.2015.07.008
PMCID: PMC4768080

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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