Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
- Author
- NISHINO, I1 2 ; JIN FU3 ; SUE, C. M1 ; YAMAMOTO, A2 ; MURAKAMI, N2 ; SHANSKE, S1 ; BYRNE, E11 ; BONILLA, E1 ; NONAKA, I2 ; DIMAURO, S1 ; HIRANO, M1 ; TANJI, K1 ; YAMADA, T4 ; SHIMOJO, S5 ; KOORI, T6 ; MORA, M7 ; RIGGS, J. E8 ; OH, S. J9 ; KOGA, Y10
[1] Department of Neurology, Columbia University, 630 West 168th Street, P&S 4-443, New York, New York 10032, United States
[2] Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan
[3] Department of Genetics and Development, Columbia University, 630 West 168th Street, P&S 4-443, New York, New York 10032, United States
[4] Department of Neurology, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan
[5] Department of Internal Medicine, Saint Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa 216-8512, Japan
[6] Department of Pediatrics, Yokohama Rosai Hospital, 321 Kozukue-cho, K, Kouhoku-ku, Yokohama Kanagawa 222-0036, Japan
[7] Department of Neuromuscular Diseases, National Neurological Institute C. Besta', Via Celoria 11, Milan 20133, Italy
[8] Department of Neurology, West Virginia University, PO Box 9180, Morgantown, West Virginia 26506, United States
[9] Department of Neurology, University of Alabama at Birmingham, UAB Station, Birmingham, Alabama 35294, United States
[10] Department of Pediatrics and Child Health, Kurume University, 67 Asahi-machi, Kurume, Fukuoka 830-0011, Japan
[11] Department of Clinical Neuroscience, St. Vincents Hospital, Fitzroy, Victoria 3065, Australia - Source
Nature (London). 2000, Vol 406, Num 6798, pp 906-910 ; ref : 29 ref
- CODEN
- NATUAS
- ISSN
- 0028-0836
- Scientific domain
- Multidisciplinary
- Publisher
- Nature Publishing, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Cardiomyopathie Etude cas Homme Lysosome pathologie Lysosome Mutation Pathogénie Protéine membranaire Danon maladie Gène LAMP2 Appareil circulatoire pathologie Arriération mentale Cardiopathie Myocarde pathologie
- Keyword (en)
- Cardiomyopathy Case study Human Lysosomal storage disease Lysosome Mutation Pathogenesis Membrane protein Cardiovascular disease Mental retardation Heart disease Myocardial disease
- Keyword (es)
- Cardiomiopatía Estudio caso Hombre Lisosoma patología Lisosoma Mutación Patogenia Proteína membranar Aparato circulatorio patología Retraso mental Cardiopatía Miocardio patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B12 Cardiology. Vascular system / 002B12A Heart / 002B12A05 Myocarditis. Cardiomyopathies
- Discipline
- Cardiology. Circulatory system
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 801585
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/35022604 
https://dx.doi.org/10.1038/35022604
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