A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

Oscar Ortega-Recalde, Dora Janeth Fonseca, Liliana Catherine Patiño, Juan Jaime Atuesta, Carolina Rivera-Nieto, Carlos Martín Restrepo, Heidi Eliana Mateus, Marjo S. van der Knaap, Paul Laissue

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Medicine & Life Sciences