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A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Guglielmi, Valeria; Pancheri, Elia; Cannone, Elena; Nigro, Vincenzo; Malatesta, Manuela; Vettori, Andrea; Giorgetti, Alejandro; Torella, Annalaura; Aurino, Stefania; Cisterna, Barbara; Marchetto, Giulia; Tomelleri, Giuliano; Tonin, Paola; Schiavone, Marco; Vattemi, Gaetano.
Afiliação
  • Guglielmi V; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
  • Pancheri E; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
  • Cannone E; Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
  • Nigro V; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Napoli, Italy.
  • Malatesta M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
  • Vettori A; Department of Biotechnology, University of Verona, Verona, Italy.
  • Giorgetti A; Department of Biotechnology, University of Verona, Verona, Italy.
  • Torella A; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Napoli, Italy.
  • Aurino S; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Napoli, Italy.
  • Cisterna B; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
  • Marchetto G; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
  • Tomelleri G; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
  • Tonin P; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
  • Schiavone M; Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
  • Vattemi G; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Clin Genet ; 104(6): 705-710, 2023 12.
Article em En | MEDLINE | ID: mdl-37553249
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatias Distais / Proteínas Musculares Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatias Distais / Proteínas Musculares Idioma: En Ano de publicação: 2023 Tipo de documento: Article