| Disease ID | Source | Name | Description |
| 616231 | OMIM | Myopathy, vacuolar, with CASQ1 aggregates (VMCQA) | An autosomal dominant mild muscle disorder characterized by adult onset of muscle cramping and weakness as well as increased levels of serum creatine kinase. The disorder is not progressive, and some patients may be asymptomatic. The disease is caused by variants affecting the gene represented in this entry. |
| 160565 | OMIM | Myopathy, tubular aggregate, 1 (TAM1) | A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness. The disease is caused by variants affecting the gene represented in this entry. |