Freitas, KeylenePinto, P. LipariDias, P.Florindo, C.Gomes, D.Oliveira, A.Jotta, R.Grazina, M.Nogueira, CéliaVilarinho, LauraGaspar, AnaJaneiro, Patrícia2026-03-032026-03-032025-03http://hdl.handle.net/10400.18/11041Introduction: Mitochondrial cytopathies (MCs) are a phenotypically heterogeneous group of inborn metabolic disorders (IMD) caused by mitochondrial respiratory chain dysfunction. Recent advances in molecular diagnostics have improved our understanding of these complex disorders. However, the extensive genetic and phenotypic heterogeneity of MCs remains only partially characterized and the correlations between specific genetic variants and clinical manifestations are just beginning to be unraveled. We hereby describe the phenotypic and genotypic variability of a cohort of 49 patients with MC.engMitochondrial CytopathiesRespiratory ChainInborn Metabolic DisordersDoenças Genéticasconference object