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LAMP2 microdeletions in patients with Danon disease

Zhao Yang1, Birgit H Funke, Linda H Cripe

  • 1Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, USA.

Circulation. Cardiovascular Genetics
|February 23, 2010
PubMed
Summary

Danon disease, a rare genetic disorder, can be caused by large microdeletions in the LAMP2 gene. These deletions disrupt LAMP2 protein function, leading to severe symptoms in affected individuals.

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