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A novel vacuolar myopathy with dilated cardiomyopathy.

Abstract
We report a 46-year-old male patient with late-onset vacuolar myopathy and dilated cardiomyopathy. Acid maltase activity of the muscle was normal, but the biopsied muscle specimen stained for lysosome-associated membrane protein-2 (LAMP-2), which has recently been reported to be deficient in muscles of patients with Danon disease. The clinical features of the patient are distinct from X-linked myopathy with excessive autophagy, infantile autophagic vacuolar myopathy and autophagic vacuolar myopathy with late-onset and multiorgan involvement (Kaneda).
AuthorsSeiichiro Sugimoto
JournalAutophagy (Autophagy) 2007 Nov-Dec Vol. 3 Issue 6 Pg. 638-9 ISSN: 1554-8627 [Print] United States
PMID17873513 (Publication Type: Case Reports, Journal Article)
Chemical References
  • LAMP2 protein, human
  • Lysosomal-Associated Membrane Protein 2
  • Lysosome-Associated Membrane Glycoproteins
Topics
  • Cardiomyopathy, Dilated (complications, diagnosis, pathology)
  • Diagnosis, Differential
  • Genetic Diseases, X-Linked (diagnosis)
  • Glycogen Storage Disease Type IIb (diagnosis)
  • Humans
  • Lysosomal-Associated Membrane Protein 2
  • Lysosome-Associated Membrane Glycoproteins (metabolism)
  • Male
  • Middle Aged
  • Muscle, Skeletal (metabolism, pathology, surgery)
  • Muscular Diseases (complications, diagnosis, metabolism)
  • Myopathies, Structural, Congenital (diagnosis)

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