Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene

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Bibliographic Details
Published in:Neuropathology 2016, Vol.36 (6), p.561-565
Main Authors: Sugie, Kazuma, Yoshizawa, Hiroyuki, Onoue, Kenji, Nakanishi, Yoko, Eura, Nobuyuki, Ogawa, Megumu, Nakano, Tomoya, Sakaguchi, Yasuhiro, Hayashi, Yukiko K., Kishimoto, Toshifumi, Shima, Midori, Saito, Yoshihiko, Nishino, Ichizo, Ueno, Satoshi
Format: Report
Language:English
Subjects:
autophagic vacuoles
cardiomyopathy
Danon disease
intellectual disability
lysosome-associated membrane protein-2 (LAMP-2)
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ISSN:0919-6544
1440-1789
DOI:10.1111/neup.12307