Danon disease
Danon disease
Definition
A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.
Also known as ANTOPOL disease, Danon disease, Danon disease, X-linked dominant, glycogen storage disease type IIb, glycogenosis due to LAMP-2 deficiency, GSD due to LAMP-2 deficiency, LAMP2 lysosomal glycogen storage disease, lysosomal glycogen storage disease caused by mutation in LAMP2, lysosomal glycogen storage disease with normal acid maltase activity — per MONDO