| Disease ID | Source | Name | Description |
| 613507 | OMIM | Glycogen storage disease 15 (GSD15) | A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. The disease is caused by variants affecting the gene represented in this entry. |
| 616199 | OMIM | Polyglucosan body myopathy 2 (PGBM2) | A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase. The disease is caused by variants affecting the gene represented in this entry. |