The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA. - Cetin, H.; Wöhrer, A.; Rittelmeyer, I.; Gencik, M.; Zulehner, G.; Zimprich, F.; Ströbel, T.; Zimprich, A. (Clinical Genetics, 2016)