Seminars in Pediatric Neurology
Volume 13, Issue 2 , Pages 90-95 , June 2006

Autophagic Vacuolar Myopathy

  • Ichizo Nishino, MD, PhD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Ichizo Nishino, MD, PhD, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.

References 

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  2. Danon MJ, Oh SJ, DiMauro S, et al. Lysosomal glycogen storage disease with normal acid maltase. Neurology. 1981;31:51–73
  3. Nishino I, Fu J, Tanji K, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature. 2000;406:906–910
  4. Sugie K, Noguchi S, Kozuka Y, et al. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol. 2005;64:513–522
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  10. Yamamoto A, Morisawa Y, Verloes A, et al. Infantile autophagic vacuolar myopathy is distinct from Danon disease. Neurology. 2001;57:903–905
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  12. Yan C, Tanaka M, Sugie K, et al. A new congenital form of X-linked autophagic vacuolar myopathy. Neurology. 2005;65:1132–1134
  13. Villanova M, Louboutin JP, Chateau D, et al. X-linked vacuolated myopathy: Complement membrane attack complex on surface membranes of injured muscle fibers. Ann Neurol. 1995;37:637–645
  14. Louboutin JP, Villanova M, Lucas-Heron B, et al. X-linked vacuolated myopathy: Membrane attack complex deposition on muscle fiber membranes with calcium accumulation on sarcolemma. Ann Neurol. 1997;41:117–120
  15. Minassian BA, Aiyar R, Alic S, et al. Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. Neurology. 2002;27:596–601

PII: S1071-9091(06)00094-5

doi: 10.1016/j.spen.2006.06.004

Seminars in Pediatric Neurology
Volume 13, Issue 2 , Pages 90-95 , June 2006

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