Phenotypes associated with the disease myopathy due to calsequestrin and SERCA1 protein overload (OMIM:616231):
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 8/10. (PMID:26136523)
- Easy fatigability (HP:0003388): Increased susceptibility to fatigue. Evidence: TAS. (OMIM:616231)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: PCS. Frequency: 4/10. (PMID:26136523)
- Muscle fiber calsequestrin 1-containing inclusion bodies (HP:0034940): The presence of inclusion bodies within the cytoplasm of muscle cells that demonstrate immunoreactivity for calsequestrin 1. Evidence: PCS. Frequency: 2/2. (PMID:30258016)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 1/10. (PMID:26136523)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. (OMIM:616231)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:26136523)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 3/10. (PMID:26136523)