title: Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
authors.affiliation: Laboratory of Clinical Neuropathology, IRCCS Oasi Maria SS, V. Conte Ruggero 73, 94018, Troina (EN), Italy. eborgione@oasi.en.it.
authors.forename: Eugenia
authors.initials: E
authors.lastname: Borgione
authors.affiliation: Laboratory of Clinical Neuropathology, IRCCS Oasi Maria SS, V. Conte Ruggero 73, 94018, Troina (EN), Italy.
authors.forename: Filippa
authors.initials: F
authors.lastname: Castello
authors.affiliation: Unit of Neuromuscular Diseases, IRCCS Oasi Maria SS, Troina, Italy.
authors.forename: Mariangela
authors.initials: M
authors.lastname: Lo Giudice
authors.affiliation: Unit of Neuromuscular Diseases, IRCCS Oasi Maria SS, Troina, Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: Santa Paola
authors.affiliation: Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Salvatore
authors.affiliation: Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
authors.forename: Gianna
authors.initials: G
authors.lastname: Berti
authors.affiliation: Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Malandrini
authors.affiliation: Unit of Neurology and Clinical Neurophysiopathology, IRCCS Oasi Maria SS, Troina, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Bottitta
authors.affiliation: Unit of Neurology, IRCCS Oasi Maria SS, Troina, Italy.
authors.forename: Sebastiano Antonino
authors.initials: SA
authors.lastname: Musumeci
authors.affiliation: Unit of Neuromuscular Diseases, IRCCS Oasi Maria SS, Troina, Italy.
authors.forename: Carmela
authors.initials: C
authors.lastname: Scuderi
mesh_terms: D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008562:Membrane Glycoproteins / Q000235:genetics; D046529:Microscopy, Electron, Transmission; D018832:Molecular Chaperones / Q000235:genetics; D009135:Muscular Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D014617:Vacuoles / Q000473:pathology / Q000648:ultrastructure; D055815:Young Adult
chemical_list: C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones