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Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Authors:Orsucci  D.  Angelini  C.  Bertini  E.  Carelli  V.  Comi  G. P.  Federico  A.  Minetti  C.  Moggio  M.  Mongini  T.  Santorelli  F. M.  Servidei  S.  Tonin  P.  Ardissone  A.  Bello  L.  Bruno  C.  Ienco  E. Caldarazzo  Diodato   D.  Filosto  M.  Lamperti  C.  Moroni  I.  Musumeci  O.  Pegoraro  E.  Primiano  G.  Ronchi  D.  Rubegni  A.  Salvatore  S.  Sciacco  M.  Valentino  M. L.  Vercelli  L.  Toscano  A.  Zeviani  M.  Siciliano  G.  Mancuso  M.
Affiliation:1.Neurological Clinic, University of Pisa, Via Roma 67, 56100, Pisa, Italy
;2.Unit of Neurology, San Luca Hospital, Lucca, Italy
;3.Fondazione IRCCS, Ospedale S. Camillo, Venice, Italy
;4.Unit of Neuromuscular Disease, Laboratory of Molecular Medicine, Bambino Gesù Hospital IRCCS, Rome, Italy
;5.IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy
;6.Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
;7.Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
;8.Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze, UOC Clinica Neurologica e Malattie Neurometaboliche, Università degli Studi di Siena, Siena, Italy
;9.Neuropediatric and Muscle Disorders Unit, University of Genoa, G. Gaslini Institute, Genoa, Italy
;10.Neuromuscular and Rare Diseases Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre University of Milan, Milan, Italy
;11.Department of Neuroscience, University of Turin, Turin, Italy
;12.IRCCS Stella Maris, Pisa, Italy
;13.Institute of Neurology, Catholic University, Rome, Italy
;14.Neurological Clinic, University of Verona, Verona, Italy
;15.Child Neurology Unit, The Foundation “Carlo Besta” Institute of Neurology-IRCCS, Milan, Italy
;16.University Hospital Spedali Civili, Neurological Clinic, Brescia, Italy
;17.Unit of Molecular Neurogenetics, The Foundation “Carlo Besta” Institute of Neurology-IRCCS, Milan, Italy
;18.Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
;19.Neuromuscular Unit, Department of Neuroscience, University of Padova, Padua, Italy
;20.Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK
;
Abstract:Journal of Neurology - Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this study is to...
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