{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Aksel Kilicarslan O"],"funding":["European Regional Development Fund"],"pagination":["8636"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12733465"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(24)"],"pubmed_abstract":["<b>Background</b>: Patients with neurodevelopmental and neuromuscular disorders often show overlapping clinical phenotypes. Pathogenic variants in <i>KMT5B</i>, a histone lysine methyltransferase, have been linked to neurodevelopmental disorders, yet their effects on human skeletal muscle remain unexplored. We report on a patient with <i>KMT5B</i>-linked disease who presented to a neuromuscular specialty clinic with significant involvement of skeletal muscle, where a multi-omics approach established the genetic diagnosis and revealed neuromuscular findings relevant for diagnosis, care and rehabilitation. <b>Methods</b>: Whole-exome sequencing was performed from blood and data was analyzed using the RD-Connect Genome Phenome Analysis Platform. Histological analysis and proteomic profiling w"],"journal":["Journal of clinical medicine"],"pubmed_title":["Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report."],"pmcid":["PMC12733465"],"funding_grant_id":["NMD-GPS"],"pubmed_authors":["Kolbel H","Schmitt LI","Lochmuller H","Chen L","Muhmann D","Eisenkolbl A","Polavarapu K","Gangfuß A","Schara-Schmidt U","Thompson R","Aksel Kilicarslan O","Lessard L","Hentschel A","Roos A"],"additional_accession":[]},"is_claimable":false,"name":"Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.","description":"<b>Background</b>: Patients with neurodevelopmental and neuromuscular disorders often show overlapping clinical phenotypes. Pathogenic variants in <i>KMT5B</i>, a histone lysine methyltransferase, have been linked to neurodevelopmental disorders, yet their effects on human skeletal muscle remain unexplored. We report on a patient with <i>KMT5B</i>-linked disease who presented to a neuromuscular specialty clinic with significant involvement of skeletal muscle, where a multi-omics approach established the genetic diagnosis and revealed neuromuscular findings relevant for diagnosis, care and rehabilitation. <b>Methods</b>: Whole-exome sequencing was performed from blood and data was analyzed using the RD-Connect Genome Phenome Analysis Platform. Histological analysis and proteomic profiling w","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-05-28T03:20:48.991Z","creation":"2026-05-28T03:11:43.362Z"},"accession":"S-EPMC12733465","cross_references":{"pubmed":["41464539"],"doi":["10.3390/jcm14248636"]}}