Associated Papers
A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
Fan P et al.
Pediatric Research, 2023
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism.
Jackson TD et al.
Molecular Biology of the Cell, 2021
Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene.
Wang B et al.
Frontiers in Pediatrics, 2021
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
Guleray N et al.
Fetal and Pediatric Pathology, 2020
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
Allali S et al.
Metabolic Brain Disease, 2017
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A et al.
Orphanet Journal of Rare Diseases, 2014
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE et al.
Science Translational Medicine, 2012
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