title: Autophagic vacuolar myopathy.
abstract: Autophagic vacuoles are a frequent feature in numerous neuromuscular disorders. However, they are also pathognomonic morphologic hallmarks in a slowly emerging new group of conditions called autophagic vacuolar myopathies (AVMs), of which Danon disease, originally called "lysosomal glycogen storage disease with normal acid maltase," is the best known entity. Other such conditions, often although not always described from Japan, are X-linked myopathy with excessive authophagy, infantile autophagic vacuolar myopathy, adult-onset autophagic vacuolar myopathy with multiorgan involvement, and X-linked congenital autophagic vacuolar myopathy. Although only 1 protein, the transmembranous lysosomal protein LAMP-2, has been found mutated in Danon disease, the remaining AVMs are genetically still incompletely identified. Several of these conditions not only share autophagic vacuoles, but such autophagic vacuoles also have morphologic properties of the sarcolemma, thus rendering them autophagic vacuoles with sarcolemmal features, an almost pathognomonic phenomenon of this group of disorders.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. nishino@ncnp.go.jp
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D001343:Autophagy / Q000502:physiology*; D005260:Female; D050172:Genes, X-Linked; D006009:Glycogen Storage Disease Type II / Q000503:physiopathology; D052120:Glycogen Storage Disease Type IIb / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics; D008297:Male; D009135:Muscular Diseases / Q000235:genetics / Q000503:physiopathology*; D012508:Sarcolemma / Q000473:pathology*; D012737:Sex Factors; D014617:Vacuoles / Q000473:pathology*
chemical_list: C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins