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Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.
Margherita Protasoni, Claudio Bruno, Maria Alice Donati, Khadra Mohamoud, Mariasavina Severino, Anna Allegri, Alan J Robinson, Aurelio Reyes, Massimo Zeviani, Caterina Garone
Dec 11, 2019
NUBPL (Nucleotide-binding protein like) protein encodes a member of the Mrp/NBP35 ATP-binding proteins family, deemed to be involved in mammalian complex I (CI) assembly process. Exome sequencing of a patient presenting with...
Brain MRI Complex I assembly Complex I assembly factors Human complex I mitochondrial disorders NUBPL Adolescent Adult Brain Child DNA Mitochondrial Female genetic variation Heterozygote Humans Infant Infant Newborn leukoencephalopathies Magnetic Resonance Imaging Male Mitochondria Mitochondrial Proteins Mutation Young Adult