DANON DISEASE: FURTHER CLINICAL AND MOLECULAR HETEROGENEITY

Abstract

Two families with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by immunostaining in cultured fibroblasts and muscle biopsies.

Partial reduction of aGal A activity, despite the absence of characteristis clinical features of Fabry disease.

Keywords

• cardiomyopathy
• Danon disease
• Fabry disease
• LAMP2
• alpha-galactosidase A
• lamp-2 gene mutation
• linked vacuolar cardiomyopathy
• hypertrophic cardiomyopathy
• fabry-disease
• myopathy
• storage
• family
• plasma
• d313y
• decay