biostudies-literatureAksel Kilicarslan OEuropean Regional Development Fund8636https://www.ebi.ac.uk/biostudies/studies/S-EPMC12733465biostudies-literatureUnknown14(24)<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 wJournal of clinical medicineCombined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.PMC12733465NMD-GPSKolbel HSchmitt LILochmuller HChen LMuhmann DEisenkolbl APolavarapu KGangfuß ASchara-Schmidt UThompson RAksel Kilicarslan OLessard LHentschel ARoos AfalseCombined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.<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 w2025-01-01T00:00:00Z2025 Dec2026-05-28T03:20:48.991Z2026-05-28T03:11:43.362ZS-EPMC127334654146453910.3390/jcm14248636