Publication | Open Access

Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency

Genetic DisorderNovel CauseGeneticsPathogenesisPathologyMitochondrial MedicineMolecular GeneticsDisease Gene IdentificationPathogenic Slirp VariantsNeuropathologyMedicineInborn Error Of ImmunityIv Deficiency