Identification of Two Novel Lamp2 Gene Mutations In Danon Disease

Abstract Background Danon disease is a rare X-linked inherited disorder characterized by massive left ventricular hypertrophy, skeletal muscle dystrophy and mental retardation. The disease is caused by mutations in the LAMP2 gene encoding for lysosome-associated membrane protein-2. Methods Two young...

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Veröffentlicht in:	Canadian journal of cardiology 2016-11, Vol.32 (11), p.1355.e23-1355.e30
Hauptverfasser:	Csányi, Beáta, MSc, Popoiu, Anca, MD, PhD, Hategan, Lidia, PhD, Hegedűs, Zoltán, PhD, Nagy, Viktória, MD, Rácz, Katalin, MD, Hőgye, Márta, MD, PhD, Sághy, László, MD, PhD, Iványi, Béla, MD, DSc, Csanády, Miklós, MD, DSc, Forster, Tamás, MD, DSc, Sepp, Róbert, MD, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Arrhythmias, Cardiac - genetics Cardiomyopathy, Hypertrophic, Familial - genetics Cardiovascular Codon, Nonsense Female Frameshift Mutation Genetic Carrier Screening Glycogen Storage Disease Type IIb - genetics Humans Lysosomal-Associated Membrane Protein 2 - genetics Male Pedigree Young Adult
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