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Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

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Title: Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Authors: Fortunato F; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy., Fiocco L; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy., Margutti A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy., Neri M; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy., D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Pediatric Hospital, IRCCS, 00146 Rome, Italy., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Pediatric Hospital, IRCCS, 00146 Rome, Italy., Ricci E; Unit of Neurology, IRCCS A. Gemelli University Polyclinic Foundation, 00168 Rome, Italy., Mercuri EM; Nemo Clinical Center, IRCCS A. Gemelli University Polyclinic Foundation, 00168 Rome, Italy.; Pediatric Neurology, Catholic University of the Sacred Heart, 00168 Rome, Italy., Pane M; Nemo Clinical Center, IRCCS A. Gemelli University Polyclinic Foundation, 00168 Rome, Italy.; Pediatric Neurology, Catholic University of the Sacred Heart, 00168 Rome, Italy., Massa R; Unit of Neuromuscular Disorders, Department of Systems Medicine, Tor Vergata University of Rome, 00133 Rome, Italy., Greco G; Unit of Neuromuscular Disorders, Department of Systems Medicine, Tor Vergata University of Rome, 00133 Rome, Italy., Berardinelli AL; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, 27100 Pavia, Italy., Cereda C; Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, 20154 Milan, Italy.; Department of Biomedical and Clinical Sciences (DIBIC), University of Milan, 20122 Milan, Italy., Pini A; Pediatric Neuromuscular Unit, IRCCS Institute of Neurological Sciences of Bologna, 40139 Bologna, Italy., Merlini L; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy.; Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy., Fusco C; Child Neurology and Psychiatry Unit, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Rodolico C; Unit of Neurodegenerative Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Messina S; Unit of Neurodegenerative Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Fiorillo C; Child Neuropsichiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy., Bruno C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Pedemonte M; Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Traverso M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Moroni I; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Gibertini S; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Pegoraro E; Department of Neuroscience, University of Padua, 35122 Padua, Italy., Picillo E; Cardiomyology and Medical Genetics, University of Campania 'Luigi Vanvitelli', 80138 Napoli, Italy., Politano L; Cardiomyology and Medical Genetics, University of Campania 'Luigi Vanvitelli', 80138 Napoli, Italy., Scutifero M; Cardiomyology and Medical Genetics, University of Campania 'Luigi Vanvitelli', 80138 Napoli, Italy., Vercellino F; Child Neuropsychiatry Unit, SS. Antonio e Biagio e Cesare Arrigo Hospital, 15121 Alessandria, Italy., Massaro F; Neurology Unit, Santo Stefano Hospital, 59100 Prato, Italy., Filosto M; Department of Clinical and Experimental Sciences, University of Brescia, 25123 Brescia, Italy.; NeMO-Brescia Clinical Center for Neuromuscular Diseases, ASST Spedali Civili, 25123 Brescia, Italy., Gasparini P; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34137 Trieste, Italy.; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy., Ricci F; Neuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, 10126 Turin, Italy., Mongini TE; Neuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, 10126 Turin, Italy., Selvatici R; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy., Ferlini A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy., Gualandi F; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara and Department of Mother and Child, University Hospital S. Anna Ferrara, 44121 Ferrara, Italy.
Source: Biomolecules [Biomolecules] 2025 Oct 08; Vol. 15 (10). Date of Electronic Publication: 2025 Oct 08.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
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