Mild form of Danon disease: two case reports

Toshio Yasui,Utako Nagaoka,Yasushi Oya,Akinori Uruha, Jun Karashima,Asuka Funai,Kazuhito Miyamoto, Shiro Matsubara,Keizo Sugaya,Kazushi Takahashi,Michio Inoue,Mariko Okubo,Kazuma Sugie,Ichizo Nishino

Neuromuscular Disorders（2021）

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摘要

•We report two male patients with Danon disease showing mild manifestations.•The patients carry a mutation in exon 9b, an alternatively spliced exon, of LAMP-2.•This report reinforces the notion that mutations in the site are associated with the mild form.

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关键词

Lysosome-associated membrane protein-2 (LAMP-2),Alternative splicing,Autophagic vacuolar myopathy,Cardiomyopathy,Genotype-phenotype correlation,Autophagy

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