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Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy

1 Jan 2009

Abstract excerpt

Danon disease is an X-linked dominant multisystem disorder that includes hypertrophic cardiomyopathy with skeletal myopathy, and results from mutations in the gene encoding the lysosome-associated membrane protein-2 (LAMP-2). To date, over 20 different mutations in LAMP2 have been identified. Three members of a family, a male proband (18 years old) and 2 sisters (15 and 20 years old) were studied. Their mother...

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PMID: 19057086
DOI: 10.1253/circj.cj-08-0241

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Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic CardiomyopathyPMID 19057086Read ↗

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