Concepedia

Publication | Open Access

LAMP2 Microdeletions in Patients With Danon Disease

DOIFull Paper Access

37

Citations

28

References

2010

Year

Yang Zhao, Birgit H. Funke, Linda Cripe, G. Wesley Vick, Debora Mancini‐DiNardo, Liana S. Peña, Ronald J. Kanter, Brenda Wong, Brandy H. Westerfield, Jaquelin J. Varela,
Circulation Cardiovascular Genetics

Abstract

This article is the first report of Danon disease caused by microdeletions at Xq24, which functionally ablate LAMP2. The microdeletion mechanism appears to involve 1 Alu-mediated unequal recombination and 2 chromosomal breakage points involving TA-rich repeat sequences.

References

YearCitations

Page 1