title: LAMP-2 positive 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).
authors.affiliation: Department of Neurology, National Hospital Organization, Miyazaki Higashi Hospital. sugimoto-s@fc.med.miyazaki-u.ac.jp
authors.forename: Seiichiro
authors.initials: S
authors.lastname: Sugimoto
authors.forename: Kazutaka
authors.initials: K
authors.lastname: Shiomi
authors.forename: Ayaka
authors.initials: A
authors.lastname: Yamamoto
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Takekazu
authors.initials: T
authors.lastname: Ohi
mesh_terms: D017668:Age of Onset; D001706:Biopsy; D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D003937:Diagnosis, Differential; D018450:Disease Progression; D005786:Gene Expression Regulation; D052120:Glycogen Storage Disease Type IIb / Q000175:diagnosis; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D008247:Lysosomes / Q000378:metabolism* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D009206:Myocardium / Q000378:metabolism / Q000473:pathology
chemical_list: C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins