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Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions.
Manini, Arianna; Caporali, Leonardo; Meneri, Megi; Zanotti, Simona; Piga, Daniela; Arena, Ignazio Giuseppe; Corti, Stefania; Toscano, Antonio; Comi, Giacomo Pietro; Musumeci, Olimpia; Carelli, Valerio; Ronchi, Dario.
Afiliação
  • Manini A; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Caporali L; Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
  • Meneri M; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Zanotti S; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Department of Neuroscience, Milan, Italy.
  • Piga D; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Milan, Italy.
  • Arena IG; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Department of Neuroscience, Milan, Italy.
  • Corti S; Unit of Neurology and Neuromuscular disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  • Toscano A; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Comi GP; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Department of Neuroscience, Milan, Italy.
  • Musumeci O; Unit of Neurology and Neuromuscular disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  • Carelli V; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Ronchi D; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Milan, Italy.
Front Genet ; 13: 906667, 2022.
Article em En | MEDLINE | ID: mdl-35711919

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article