Neuromuscul Disord. 2003 Nov;13(9):708-11.

Characterization of Danon disease in a male patient and his affected mother.

Sugie K, Koori T, Yamamoto A, Ogawa M, Hirano M, Inoue K, Nonaka I, Nishino I.

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Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, 187-8502, Tokyo, Japan.

Abstract

Danon disease, primary lysosome-associated membrane protein-2 (LAMP-2) deficiency, is histologically characterized by unusual vacuoles bound by membranes with sarcolemmal features in skeletal muscle. We studied skeletal muscle specimens from a male patient with genetically confirmed Danon disease who had two muscle biopsies, at age 20 months and 16 years, and from his mother with cardiomyopathy but without clinically apparent skeletal myopathy. In the patient, the number of vacuoles increased over the 14-year interval between biopsies, suggesting that the number of vacuolated fibers increases with age, and correlates with the development of muscle symptoms. In contrast, in the muscle biopsy from the mother there were no vacuoles even though she had decreased LAMP-2.

PMID:: 14561493; [PubMed - indexed for MEDLINE]

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Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). [Nature. 2000]
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, et al. Nature. 2000 Aug 24; 406(6798):906-10.
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Review Disease model: LAMP-2 enlightens Danon disease. [Trends Mol Med. 2001]
Review Disease model: LAMP-2 enlightens Danon disease.
Saftig P, Tanaka Y, Lüllmann-Rauch R, von Figura K. Trends Mol Med. 2001 Jan; 7(1):37-9.

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Cited by 1 PubMed Central article

Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. [Am J Pathol. 2006]
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.
Fanin M, Nascimbeni AC, Fulizio L, Spinazzi M, Melacini P, Angelini C. Am J Pathol. 2006 Apr; 168(4):1309-20.

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