Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

Conclusion: This study reports the first Sudanese family with ARG1 mutation. The reported variant is a loss-of-function missense mutation. Its pathogenicity is strongly supported by the clinical phenotype, the computational functional impact prediction, the complete co-segregation with the disease, and the biochemical assessment.

Source: Frontiers in Neurology - October 29, 2020 Category: Neurology Source Type: research