title: Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.
authors.affiliation: From the Program in Genetics and Genome Biology (I.M., N.R., A.R., B.A.M.), and Division of Neurology, Department of Paediatrics (B.A.M.), The Hospital for Sick Children, Toronto, Canada; Department of Pediatrics (T.A.), Kyoto University Hospital; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, NCNP, Tokyo, Japan; Institute of Medical Sciences (B.A.M.), University of Toronto, Canada.
authors.forename: Iulia
authors.initials: I
authors.lastname: Munteanu
authors.affiliation: From the Program in Genetics and Genome Biology (I.M., N.R., A.R., B.A.M.), and Division of Neurology, Department of Paediatrics (B.A.M.), The Hospital for Sick Children, Toronto, Canada; Department of Pediatrics (T.A.), Kyoto University Hospital; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, NCNP, Tokyo, Japan; Institute of Medical Sciences (B.A.M.), University of Toronto, Canada.
authors.forename: Nivetha
authors.initials: N
authors.lastname: Ramachandran
authors.affiliation: From the Program in Genetics and Genome Biology (I.M., N.R., A.R., B.A.M.), and Division of Neurology, Department of Paediatrics (B.A.M.), The Hospital for Sick Children, Toronto, Canada; Department of Pediatrics (T.A.), Kyoto University Hospital; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, NCNP, Tokyo, Japan; Institute of Medical Sciences (B.A.M.), University of Toronto, Canada.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ruggieri
authors.affiliation: From the Program in Genetics and Genome Biology (I.M., N.R., A.R., B.A.M.), and Division of Neurology, Department of Paediatrics (B.A.M.), The Hospital for Sick Children, Toronto, Canada; Department of Pediatrics (T.A.), Kyoto University Hospital; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, NCNP, Tokyo, Japan; Institute of Medical Sciences (B.A.M.), University of Toronto, Canada.
authors.forename: Tomonari
authors.initials: T
authors.lastname: Awaya
authors.affiliation: From the Program in Genetics and Genome Biology (I.M., N.R., A.R., B.A.M.), and Division of Neurology, Department of Paediatrics (B.A.M.), The Hospital for Sick Children, Toronto, Canada; Department of Pediatrics (T.A.), Kyoto University Hospital; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, NCNP, Tokyo, Japan; Institute of Medical Sciences (B.A.M.), University of Toronto, Canada.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.affiliation: From the Program in Genetics and Genome Biology (I.M., N.R., A.R., B.A.M.), and Division of Neurology, Department of Paediatrics (B.A.M.), The Hospital for Sick Children, Toronto, Canada; Department of Pediatrics (T.A.), Kyoto University Hospital; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, NCNP, Tokyo, Japan; Institute of Medical Sciences (B.A.M.), University of Toronto, Canada. berge.minassian@sickkids.ca.
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
mesh_terms: D000293:Adolescent; D000328:Adult; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009135:Muscular Diseases / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D035781:Siblings; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*; D055815:Young Adult
chemical_list: C540401:VMA21 protein, human; D025262:Vacuolar Proton-Translocating ATPases
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