Article
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.
Neuromuscular disorders : NMD - 1 Feb 2009
Kollberg Gittan, Darin Niklas, Benan Karin, Moslemi Ali-Reza, Lindal Sigurd, Tulinius Már, Oldfors Anders, Holme Elisabeth
Abstract excerpt
This report describes two brothers, both deceased in infancy, with severe depletion of mitochondrial DNA (mtDNA) in muscle tissue. Both had feeding difficulties, failure to thrive, severe muscular hypotonia and lactic acidosis. One of the boys developed a renal proximal tubulopathy. A novel homozygous c.686 G-->T missense mutation in the RRM2B gene, encoding the p53-inducible ribonucleotide reductase subunit...
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