The single nucleotide variant at c.662A>G in human RRM2B is a loss‐of‐function mutation
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DOI: 10.1002/mgg3.1497
Abstract: Mitochondrial DNA maintenance defects (MDMDs) is one of the critical pediatric dysfunction. One of the recent report indicated that a severe patient of MDMDs carries the NP_056528.2:p.Asn221Ser (N221S) variation in the RRM2B gene (NM_015713.5). However,… read more here.
Keywords: 662a human; rrm2b; human rrm2b; single nucleotide ... See more keywords
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
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DOI: 10.1038/s41436-019-0613-z
Abstract: Purpose Mitochondrial DNA (mtDNA) depletion syndrome (MDDS) encompasses a group of genetic disorders of mtDNA maintenance. Mutation of RRM2B is an uncommon cause of infantile-onset encephalomyopathic MDDS. Here we describe the natural history of this… read more here.
Keywords: rrm2b; depletion syndrome; natural history; mitochondrial dna ... See more keywords