| glycogeenstapelingsziekte met ernstige cardiomyopathie door glycogeninedeficiëntie (aandoening) |
| glycogeenstapelingsziekte met ernstige cardiomyopathie door glycogeninedeficiëntie |
| GSD type XV
glycogeenstapelingsziekte met ernstige cardiomyopathie door deficiëntie van glycogenine
|
| Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency |
| Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
|
| A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent. |
