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Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy.
Bosco, Luca; Leone, Daniela; Costa Comellas, Laura; Monforte, Mauro; Pane, Marika; Mercuri, Eugenio; Bertini, Enrico; D'Amico, Adele; Fattori, Fabiana.
  • Bosco L; Genetics and Rare Diseases Research Division, Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Viale S. Paolo 15, 00146 Rome, Italy.
  • Leone D; Department of Science, University "Roma Tre", Viale Marconi 446, 00146 Rome, Italy.
  • Costa Comellas L; Centro Clinico Nemo, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Largo A. Gemelli 8, 00146 Roma, Italy.
  • Monforte M; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Passeig de la Vall d'Hebron, 119-129, 08035 Barcelona, Spain.
  • Pane M; UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00146 Rome, Italy.
  • Mercuri E; Centro Clinico Nemo, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Largo A. Gemelli 8, 00146 Roma, Italy.
  • Bertini E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Largo A. Gemelli 8, 00146 Rome, Italy.
  • D'Amico A; Centro Clinico Nemo, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Largo A. Gemelli 8, 00146 Roma, Italy.
  • Fattori F; Pediatric Neurology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Largo A. Gemelli 8, 00146 Rome, Italy.
Int J Mol Sci ; 23(18)2022 Sep 07.
Article en En | MEDLINE | ID: mdl-36142184
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Miopatías Estructurales Congénitas / Proteínas Tirosina Fosfatasas no Receptoras Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans / Infant / Male Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Miopatías Estructurales Congénitas / Proteínas Tirosina Fosfatasas no Receptoras Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans / Infant / Male Idioma: En Año: 2022 Tipo del documento: Article