Primary LAMP-2 deficiency causes X-linked vacoular cardiomyopathy and myopathy (Danon disease)

被引：626

作者：

Nishino I. ^{[1
,3
]}

Fu J. ^{[2
]}

Tanji K. ^{[1
]}

Yamada T. ^{[4
]}

Shimojo S. ^{[5
]}

Koori T. ^{[6
]}

Mora M. ^{[7
]}

Riggs J.E. ^{[8
]}

Oh S.J. ^{[9
]}

Koga Y. ^{[10
]}

Sue C.M. ^{[1
]}

Yamamoto A. ^{[3
]}

Murakami N. ^{[3
]}

Shanske S. ^{[1
]}

Byrne E. ^{[11
]}

Bonilla E. ^{[1
]}

Honaka I. ^{[3
]}

DiMauro S. ^{[1
]}

Hirano M. ^{[1
]}

机构：

[1] Department of Neurology, Columbia University, New York, NY 10032, 630 West 168th Street

[2] Dept. of Genetics and Development, Columbia University, New York, NY 10032, 630 West 168th Street

[3] Dept. of Ultrastructural Research, National Institute of Neuroscience, Natl. Ctr. of Neurol. and Psychiatry, Kodaira, Tokyo 187-8502

[4] Department of Neurology, Kyushu University, Fukuoka 812-8582, 3-1-1 Maidashi, Higashi-ku

[5] Department of Internal Medicine, S. Marianna Univ. School of Medicine, Kawasaki, Kanagawa 216-8512, 2-16-1 Sugao, Miyamae-ku

[6] Department of Pediatrics, Yokohama Rosai Hospital, Yokohama Kanagawa 222-0036, 321 Kozukue-cho, Kouhoku-ku

[7] Department of Neuromuscular Diseases, Natl. Neurol. Institute C. Besta, Milan 20133

[8] Department of Neurology, West Virginia University, Morgantown, WV 26506

[9] Department of Neurology, University of Alabama at Birmingham, UAB Station, Birmingham

[10] Dept. of Pediatrics and Child Health, Kurume University, Kurume, Fukuoka 830-0011

[11] Department of Clinical Neuroscience, St. Vincents Hospital, Fitzroy

来源：

Nature | 2000年 / 406卷 / 6798期

关键词：

D O I：

10.1038/35022604

中图分类号：

学科分类号：

摘要：

'Lysosomal glycogen storage disease with normal acid maltase', which was originally described by Danon et al., is characterized clinically by cardiomyopathy, myopathy and variable mental retardation. The pathological hallmark of the disease is intra-cytoplasmic vacuoles containing autophagic material and glycogen in skeletal and cardiac muscle cells. Sarcolemmal proteins and basal lamina are associated with the vacuolar membranes. Here we report ten unrelated patients, including one of the patients from the original case report, who have primary deficiencies of LAMP-2, a principal lysosomal membrane protein. From these results and the finding that LAMP-2-deficient mice manifest a similar vacuolar cardioskeletal myopathy, we conclude that primary LAMP-2 deficiency is the cause of Danon disease4. To our knowledge this is the first example of human cardiopathy-myopathy that is caused by mutations in a lysosomal structural protein rather than an enzymatic protein.

引用

页码：906 / 910

页数：4

共 29 条

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