Journal of Pediatric Neurology 2023; 21(06): 475-478
DOI: 10.1055/s-0043-1771352
DOI: 10.1055/s-0043-1771352
Case Report
DNM1L Variant Presenting as Adolescent-Onset Sensory Neuronopathy, Spasticity, Dystonia, and Ataxia
Authors
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1 Department of Neurology, University Hospitals Cleveland Medical Center, Cleveland, Ohio, United States2 Department of Neurology, Case Western Reserve University, Cleveland, Ohio, United States
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Gabrielle Lemire
3 Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States4 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 States4 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 States2 Department of Neurology, Case Western Reserve University, Cleveland, Ohio, United States