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The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Laforgia, Nicola; De Cosmo, Lucrezia; Palumbo, Orazio; Ranieri, Carlotta; Sesta, Michela; Capodiferro, Donatella; Pantaleo, Antonino; Iapicca, Pierluigi; Lastella, Patrizia; Capozza, Manuela; Schettini, Federico; Bukvic, Nenad; Bagnulo, Rosanna; Resta, Nicoletta.
Afiliación
  • Laforgia N; Department of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • De Cosmo L; Department of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • Palumbo O; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
  • Ranieri C; Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • Sesta M; Neurology Unit, University Hospital Consortium Corporation Polyclinic of Bari, 70124 Bari, Italy.
  • Capodiferro D; Department of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • Pantaleo A; Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • Iapicca P; SOPHiA GENETICS SA HQ, 1025 Saint-Sulpice, Switzerland.
  • Lastella P; Rare Diseases Centre-Internal Medicine Unit "C. Frugoni", Polyclinic of Bari, 70124 Bari, Italy.
  • Capozza M; Department of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • Schettini F; Department of Biomedical Science and Human Oncology (DIMO), Section of Neonatology and Neonatal Intensive Care Unit, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • Bukvic N; Medical Genetics Section, University Hospital Consortium Corporation Polyclinic of Bari, 70124 Bari, Italy.
  • Bagnulo R; Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
  • Resta N; Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70124 Bari, Italy.
Genes (Basel) ; 11(12)2020 12 18.
Article en En | MEDLINE | ID: mdl-33353066
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Acetilcolinesterasa / Colágeno / Síndromes Miasténicos Congénitos / Proteínas Musculares Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Genes (Basel) Año: 2020 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Acetilcolinesterasa / Colágeno / Síndromes Miasténicos Congénitos / Proteínas Musculares Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant / Male Idioma: En Revista: Genes (Basel) Año: 2020 Tipo del documento: Article País de afiliación: Italia