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Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
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.
ORPHA:263297
Classification level: Disorder
- GSD type 15
- GSD type XV
- GSD with severe cardiomyopathy due to glycogenin deficiency
- Glycogen storage disease type 15
- Glycogen storage disease type XV
- Glycogenosis type 15
- Glycogenosis type XV
- Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Childhood
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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