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PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications

  • Author Footnotes
    # co-authors who contributed equally
    Hebah Qashqari
    Footnotes
    # co-authors who contributed equally
    Affiliations
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada

    Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia
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  • Author Footnotes
    # co-authors who contributed equally
    Vanda McNiven
    Footnotes
    # co-authors who contributed equally
    Affiliations
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

    Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada
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  • Hernan Gonorazky
    Affiliations
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada

    Program for Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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  • Roberto Mendoza-Londono
    Affiliations
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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  • Ahmad Hassan
    Affiliations
    Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada
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  • Tapas Kulkarni
    Affiliations
    Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada
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  • Kimberly Amburgey
    Affiliations
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada

    Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
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  • James J. Dowling
    Correspondence
    Corresponding author.
    Affiliations
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada

    Program for Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

    Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada

    Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
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  • Author Footnotes
    # co-authors who contributed equally
Published:September 21, 2022DOI:https://doi.org/10.1016/j.nmd.2022.09.007

      Abstract

      PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option.

      Keywords

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