Inherited rimmed vacuolar myopathies (RVMs) are a genetically heterogeneous group of disorders characterised by rimmed vacuoles on muscle biopsy. Most reports focus on individual subtypes, and comprehensive clinicopathological-genetic analyses across the RVM spectrum remain limited. Using an integrated diagnostic strategy, we identified 16 disease-causing genes in our cohort, highlighting marked genetic and clinical heterogeneity. Our findings expand the recognised clinical, imaging and pathological spectrum of RVMs. Our findings support the implementation of comprehensive, multimodal diagnostic evaluation combined with broad genetic testing in patients with rimmed vacuolar pathology. This approach may enhance diagnostic accuracy and improve patient stratification for targeted management and future therapeutic trials.
Rimmed vacuolar myopathies (RVMs) are a clinically and aetiologically heterogeneous group of neuromuscular disorders characterised by impaired autophagy and the presence of rimmed vacuoles (RVs) in muscle biopsies. Histologically, RVs…