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01-05-2016 | Letter to the Editor

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Authors: Eugenia Borgione, Filippa Castello, Mariangela Lo Giudice, Sandro Santa Paola, Simona Salvatore, Gianna Berti, Alessandro Malandrini, Maria Bottitta, Sebastiano Antonino Musumeci, Carmela Scuderi

Published in: Neurological Sciences | Issue 5/2016

Excerpt

Dear Editor, …

Miller JN, Chan CH, Pearce DA (2013) The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. Hum Mol Genet 22:2723–2734CrossRefPubMedPubMedCentral

Villanova M, Ceuterick C, Dotti MT et al (1999) Detection of β-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer–Vogt–Sjögren). Acta Neuropathol 98:78–84CrossRefPubMed

Cortese A, Tucci A, Piccolo G et al (2014) Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology 82:2072–2076CrossRefPubMedPubMedCentral

Nishino I (2006) Autophagic vacuolar myopathy. Semin Pediatr Neurol 13:90–95CrossRefPubMed

Cao Y, Espinola JA, Fossale E, Massey AC, Cuervo AM, MacDonald ME, Cotman SL (2006) Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem 281:20483–20493CrossRefPubMed

Title: Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
Authors: Eugenia Borgione
Filippa Castello
Mariangela Lo Giudice
Sandro Santa Paola
Simona Salvatore
Gianna Berti
Alessandro Malandrini
Maria Bottitta
Sebastiano Antonino Musumeci
Carmela Scuderi
Publication date: 01-05-2016
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 5/2016
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-015-2439-z

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Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

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