Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene
Meinert, Monika, Englund, Elisabet, Hedberg-Oldfors, Carola, Oldfors, Anders, Kornhall, Björn, Lundin, Catarina, Wittström, ElisabethLanguage:
english
Journal:
Ophthalmic Genetics
DOI:
10.1080/13816810.2019.1627464
Date:
July, 2019
File:
PDF, 1.98 MB
english, 2019