Associated Papers
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Kiss S et al.
American Journal of Medical Genetics. Part A, 2023
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
Ortega-Recalde O et al.
Mitochondrion, 2013
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