Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Ozge Aksel Kilicarslan
raw_affiliation_strings: Children’s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada
Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada
raw_author_name: Andrea Gangfuß
raw_affiliation_strings: Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany
raw_author_name: Heike Kölbel
raw_affiliation_strings: Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany
raw_author_name: David Muhmann
raw_affiliation_strings: Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany
raw_author_name: Kiran Polavarapu
raw_affiliation_strings: Children’s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada
Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada
raw_author_name: Rachel Thompson
raw_affiliation_strings: Children’s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada
Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada
raw_author_name: Linda-Isabell Schmitt
raw_affiliation_strings: Department of Neurology, University Duisburg-Essen, 45147 Essen, Germany
raw_author_name: Lola Lessard
raw_affiliation_strings: Institut NeuroMyoGène (INMG), Pathophysiology and Genetics of Neuron and Muscle (PGNM), CNRS UMR 5261-INSERM U1315, Université Claude Bernard Lyon 1, Faculté de Médecine, 69008 Lyon, France
Service Troubles du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique, Groupement Hospitalier Est, Hospices Civils de Lyon, 69500 Bron, France
raw_author_name: Lei Chen
raw_affiliation_strings: Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany
raw_author_name: Astrid Eisenkölbl
raw_affiliation_strings: Children’s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada
Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, 4020 Linz, Austria
raw_author_name: Ulrike Schara-Schmidt
raw_affiliation_strings: Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany
raw_author_name: Andreas Hentschel
raw_affiliation_strings: Leibniz-Institut für Analytische Wissenschaften, ISAS, e.V., 44139 Dortmund, Germany
raw_author_name: Hanns Lochmüller
raw_affiliation_strings: Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1N 8M5, Canada
Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain
Children’s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada
Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada
Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON K1H 8L6, Canada
raw_author_name: Andreas Roos
raw_affiliation_strings: Brain and Mind Research Institute, University of Ottawa, Ottawa, ON K1N 8M5, Canada
Children’s Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 8L1, Canada
Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany