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

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

Background: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of the urea cycle, presents after the first year of age with regression of milestones and evolves gradually into progressive spastic quadriplegia and cognitive dysfunction. Genetic s...

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Bibliographic Details
Main Authors: Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan Abubaker, Mahmoud Koko, Amal S. I. Abd Allah, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-10-01
Series:Frontiers in Neurology
Subjects:
hyperargininemia
ARG1 gene
whole exome sequencing
Sudan
spastic quadriplegia
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2020.569996/full

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https://www.frontiersin.org/articles/10.3389/fneur.2020.569996/full

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