New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation.

Abstract excerpt

Danon disease (DD), a rare X-linked genetic illness with a poor prognosis, is caused by a mutation in the lysosome-associated membrane protein 2 gene (LAMP2). Three main clinical features of this pathology are cardiomyopathy, skeletal myopathy, and mental retardation. Most Danon disease mutations create premature stop codons resulting in the decrease or absence of LAMP2 protein.

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosomes
• Share to Intellectual Disability
• Share to Lysosomal-Associated Membrane Protein 2