Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
About this item
Full title
Author / Creator
Nishino, Ichizo , Fu, Jin , Tanji, Kurenai , Yamada, Takeshi , Shimojo, Sadatomo , Koori, Tateo , Mora, Marina , Riggs, Jack E. , Oh, Shin J. , Koga, Yasutoshi , Sue, Carolyn M. , Yamamoto, Ayaka , Murakami, Nobuyuki , Shanske, Sara , Byrne, Edward , Bonilla, Eduardo , Nonaka, Ikuya , DiMauro, Salvatore and Hirano, Michio
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
“Lysosomal glycogen storage disease with normal acid maltase”, which was originally described by Danon
et al.
1
, is characterized clinically by cardiomyopathy, myopathy and variable mental retardation. The pathological hallmark of the disease is intracytoplasmic vacuoles containing autophagic material and glycogen in skeletal and cardiac...
Alternative Titles
Full title
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_762281384
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_762281384
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/35022604
