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Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome.

Human molecular genetics - 26 Jun 2026

Lafabrie Emma, Tard Céline, Cintas Pascal, Ribes Agnès, Laporte Jocelyn, Böhm Johann

Abstract excerpt

Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) are clinically overlapping disorders characterized by muscle weakness, thrombocytopenia, spleen anomalies and short stature. They are due to mutations affecting the Ca2+ sensor STIM1 or the Ca2+ channel ORAI1 and leading to aberrant Ca2+ homeostasis. Therapeutic approaches aiming to rebalance intracellular Ca2+ levels largely rescued the...

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Blood Platelet Disorders
Erythrocytes, Abnormal
Ichthyosis
Joints
Myopathies, Structural, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Stromal Interaction Molecule 1

Source

Identifiers

PMID: 42398094
DOI: 10.1093/hmg/ddag059

Genes

MYOM3
ORAI1
STIM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome.PMID 42398094Read ↗

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

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

Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.Semantic proximity Read ↗

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.Semantic proximity Read ↗

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in miceSemantic proximity Read ↗

Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.Semantic proximity Read ↗

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.Semantic proximity Read ↗

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate MyopathySemantic proximity Read ↗

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure.Semantic proximity Read ↗

Defects in skeletal myotubes caused by STIM1 I115F that lead to tubular aggregate myopathy and Stormorken syndrome, and their restoration at the cellular level.Semantic proximity Read ↗

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.Semantic proximity Read ↗

Functional analyses of <i>STIM1</i> mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

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