myopathy due to calsequestrin and SERCA1 protein overload
Findings
No curated finding names myopathy due to calsequestrin and SERCA1 protein overload yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.
Definition from the Mondo Disease Ontology (MONDO:0014546), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Muscle fiber calsequestrin 1-containing inclusion bodiesHPOHP:0034940
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 8 of 10 reported patients
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- Muscle spasmHPOHP:0003394
- 4 of 10 reported patients
- MyalgiaHPOHP:0003326
- 3 of 10 reported patients
- Muscle weaknessHPOHP:0001324
- 1 of 10 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.
- CASQ1HGNC:1512
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021