Associated Papers
Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology.
Wang Y et al.
Frontiers in Pediatrics, 2024
38737634 (PubMed )
Supplement: Datasheet1.pdf
The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation.
Tseng YT et al.
Molecular Genetics & Genomic Medicine, 2020
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Keshavan N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Phenotypic and Genotypic Heterogeneity of RRM2B Variants.
Finsterer J et al.
Neuropediatrics, 2018
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.
Yu-Wai-Man C et al.
Plos One, 2013
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Pitceathly RD et al.
Brain : a Journal of Neurology, 2012
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
Bornstein B et al.
Neuromuscular Disorders : Nmd, 2008
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