Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.

ABSTRACT:

Background

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric genes. However, extensive genetic screening failed to identify a mutation in about a third of cases. One possible explanation is that other diseases, caused by other genes, may mimic HCM.

Objective

To investigate the possible involvement of Danon's disease, an X linked lysosomal disease, in a large population of patients with HCM.

Methods

A population of 197 index cases was considered; 124 were subsequently excluded because of a mutation in sarcomeric genes and 23 because of autosomal dominant inheritance. Fifty index cases were therefore included in molecular analysis (direct sequencing) of the lysosome associated membrane protein 2 (LAMP2) gene responsible

SUBMITTER: Charron P 

PROVIDER: S-EPMC1768382 | biostudies-literature | 2004 Aug

REPOSITORIES: biostudies-literature