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GENATLAS PHENOTYPE

last update : 6/07/2006

Symbol	GSD2B
Location	Xq24
Name	glycogene storage disease, type II, Danon disease
Corresponding gene	LAMP2
Main clinical features	characterized in adult by cardiomyopathy, myopathy, mental retardation, choriocapillary atrophy, with intra cytoplasmic vacuoles containing autophagic material and glycogen in skeletal and cardiac muscle cells . also onset in infancy, with skeletal myopathy and/or Wolff-Parkinson-White syndrome and hypertrophic cardiomyopathy, progressing to dilated . pre-excitation, skeletal muscle involvement and retinal pigmentary dystrophy cardiomyopathy (DCM) and heart failure
Genetic determination	sex linked
Function/system disorder	metabolism/carbohydrates
	metabolism/lysosomal
Type	disease