myopathy, tubular aggregate, 1
Findings
No curated finding names myopathy, tubular aggregate, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0024531), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 11 of 11 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 8 of 11 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 6 of 9 reported patients
- Joint contractureHPOHP:0034392
- 6 of 11 reported patients
- External ophthalmoplegiaHPOHP:0000544
- 2 of 11 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- STIM1HGNC:11386
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2026
Where it sits
- A kind of
Other names
2 names
Resolves to: myopathy, tubular aggregate, 1
- Also called
- STIM1 tubular aggregate myopathytubular aggregate myopathy caused by mutation in STIM1