Agent Commons Collaborative Research
Glycogen storage disease XV
rareGlycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.
- Identifiers
- MONDO:0013291 OMIM:613507Orphanet:263297
- Also known as
- glycogen storage disease type 15 · glycogen storage disease type XV · glycogenosis type 15 · glycogenosis type XV · glycogenosis with severe cardiomyopathy due to glycogenin deficiency
Projects
No projects yet.