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A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Rodríguez Cruz, Pedro M; Ravenscroft, Gianina; Natera, Daniel; Carr, Aisling; Manzur, Adnan; Liu, Wei Wei; Vella, Norbert R; Jericó, Ivonne; Gonzalez-Quereda, Lidia; Gallano, Pia; Montalto, Simon Attard; Davis, Mark R; Lamont, Phillipa J; Laing, Nigel G; Bourque, Pierre; Nascimento, Andres; Muntoni, Francesco; Polavarapu, Kiran; Lochmüller, Hanns; Palace, Jacqueline; Beeson, David.
Afiliação
  • Rodríguez Cruz PM; CNAG-CRG, Centro Nacional de Análisis Genómico - Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain. Electronic address: pedro.rodriguez@cnag.crg.eu.
  • Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia; Centre of Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Natera D; Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Carr A; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
  • Manzur A; Dubowitz Neuromuscular Centre, NIHR Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Liu WW; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford, UK.
  • Vella NR; Department of Neuroscience, Mater Dei Hospital, Msida, Malta.
  • Jericó I; Department of Neurology, Hospital Universitario de Navarra, IdisNa (Instituto Investigación Sanitaria Navarra), Pamplona, Spain.
  • Gonzalez-Quereda L; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Department of Genetics, Hospital de Sant Pau, IIB Sant Pau, Barcelona, Spain.
  • Gallano P; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Department of Genetics, Hospital de Sant Pau, IIB Sant Pau, Barcelona, Spain.
  • Montalto SA; Department of Paediatrics, Mater Dei Hospital, Msida, Malta.
  • Davis MR; Neurogenetic Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Western Australian Department of Health, Nedlands, WA, Australia.
  • Lamont PJ; Department of Neurology, Royal Perth Hospital, Nedlands, WA, Australia.
  • Laing NG; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia; Centre of Medical Research, University of Western Australia, Nedlands, WA, Australia; Neurogenetic Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Western Australian Department of Health, Nedlands, WA, Austr
  • Bourque P; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
  • Nascimento A; Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Muntoni F; Dubowitz Neuromuscular Centre, NIHR Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
  • Lochmüller H; CNAG-CRG, Centro Nacional de Análisis Genómico - Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada; Division of Neurology, Department of Medicine, The Ottawa
  • Palace J; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
  • Beeson D; Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford, UK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Neuromuscul Disord ; 33(2): 161-168, 2023 02.
Article em En | MEDLINE | ID: mdl-36634413
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores Nicotínicos / Síndromes Miastênicas Congênitas Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores Nicotínicos / Síndromes Miastênicas Congênitas Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article