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Journal of Pediatric Neurology 2023; 21(06): 475-478
DOI: 10.1055/s-0043-1771352
Case Report

DNM1L Variant Presenting as Adolescent-Onset Sensory Neuronopathy, Spasticity, Dystonia, and Ataxia

Authors

  • Alexander S. Wang

    1   Department of Neurology, University Hospitals Cleveland Medical Center, Cleveland, Ohio, United States
    2   Department of Neurology, Case Western Reserve University, Cleveland, Ohio, United States
  • Gabrielle Lemire

    3   Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States
    4   Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States
  • Grace E. VanNoy

    3   Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States
  • Christina Austin-Tse

    3   Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States
  • Anne O'Donnell-Luria

    3   Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States
    4   Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States
  • Camilla Kilbane

    1   Department of Neurology, University Hospitals Cleveland Medical Center, Cleveland, Ohio, United States
    2   Department of Neurology, Case Western Reserve University, Cleveland, Ohio, United States