title: Infantile autophagic vacuolar myopathy is distinct from Danon disease.
abstract: Lysosomal glycogen storage disease with normal acid maltase (Danon) is caused by primary lysosome-associated membrane protein-2 (LAMP-2) deficiency. Typically, the disease begins after the first decade; however, two infantile patients had similar histologic features. The infantile disorder is distinct from Danon disease, because, in both infants, LAMP-2 protein is present in skeletal muscle. Deposition of C5b-9 and multilayered basal lamina in one patient suggest that the infantile disease is pathogenically similar to X-linked myopathy with excessive autophagy.
authors.affiliation: Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Yamamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Morisawa
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: N
authors.initials: N
authors.lastname: Murakami
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: I
authors.initials: I
authors.lastname: Nishino
mesh_terms: D015703:Antigens, CD / Q000378:metabolism; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000378:metabolism / Q000473:pathology*; D051907:Lysosomal Membrane Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009135:Muscular Diseases / Q000378:metabolism / Q000473:pathology*
chemical_list: D015703:Antigens, CD; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins