Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings

• DOI: 10.1016/j.mito.2025.102007
• Publication Date: 2025-02-01T00:55:03Z
• Authors: Jaakko Oikarainen; Reetta Hinttala; Naemeh Nayebzadeh; Salla M. Kangas; Katariina Mankinen; Elisa Rahikkala; Hannaleena Kokkonen; Päivi Vieira; Maria Suo-Palosaari; Johanna Uusimaa