| Disease ID | Source | Name | Description |
| 612932 | OMIM | Glycogen storage disease 13 (GSD13) | A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis. The disease is caused by variants affecting the gene represented in this entry. |