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    A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy

    We report a case of mild cavitating leukoencephalopathy associated with a homozygous c.755A > G (p.Asp252Gly) NDUFS1 mutation in a 7-year old boy. Biochemical analysis confirmed an isolated reduction in complex I...

    Alireza Kashani, Isabelle Thiffault, Marie-Emmanuelle Dilenge… in neurogenetics (2014)