Mutations in PPCS and PPCDC are associated with forms of dilated cardiomyopathy (Iuso et al., 2018; Lok et al., 2022; Bravo-Alonso et al., 2023), while variants in PANK2 and COASY cause neurological disorders classified as Neurodegenerations with Brain Iron Accumulation (NBIA). The gene discussed is COASY; the disease is neurodegenerative disease.