Condition: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
rs121918308
in
RRM2B
gene and
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
PMID 17486094
2007 Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
PMID 18504129
2008 Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
PMID 19667227
2009 Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.