Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
Nishino I; Fu J; Tanji K; Yamada T; Shimojo S; Koori T; Mora M; Riggs JE; Oh SJ; Koga Y; Sue CM; Yamamoto A; Murakami N; Shanske S; Byrne E; Bonilla E; Nonaka I; DiMauro S; Hirano M; Nature, 2000, vol. 406, issue 6798, p 906, ISSN 00280836. ISBN 00280836.

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