Article
Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Dec 2016
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
Abstract excerpt
Danon disease, primary lysosome-associated membrane protein-2 (LAMP-2) deficiency, is characterized clinically by cardiomyopathy, myopathy and intellectual disability in boys. Because Danon disease is inherited in an X-linked dominant fashion, males are more severely affected than females, who usually have only cardiomyopathy without myopathy or intellectual disability; moreover, the onset of symptoms in females...
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