| A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. | |
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MedLine Citation:
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PMID: 19138848 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 (p53R2), was identified. This is the third report on mutations in RRM2B associated with severe mtDNA depletion, which further highlights the importance of de novo synthesis of deoxyribonucleotides (dNTPs) for mtDNA maintenance. |
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Authors:
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Gittan Kollberg; Niklas Darin; Karin Benan; Ali-Reza Moslemi; Sigurd Lindal; Már Tulinius; Anders Oldfors; Elisabeth Holme |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-01-12 |
Journal Detail:
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Title: Neuromuscular disorders : NMD Volume: 19 ISSN: 0960-8966 ISO Abbreviation: Neuromuscul. Disord. Publication Date: 2009 Feb |
Date Detail:
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Created Date: 2009-02-09 Completed Date: 2009-05-04 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9111470 Medline TA: Neuromuscul Disord Country: England |
Other Details:
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Languages: eng Pagination: 147-50 Citation Subset: IM |
Affiliation:
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Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna Stråket 16, SE-413 45 Göteborg, Sweden. gittan.kollberg@gu.se |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acidosis, Lactic
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genetics,
metabolism,
physiopathology Cell Cycle Proteins / genetics* DNA Mutational Analysis DNA, Mitochondrial / genetics* Deoxyribonucleotides / biosynthesis Down-Regulation Fatal Outcome Genetic Markers / genetics Genetic Predisposition to Disease / genetics* Homozygote Humans Infant Male Mitochondrial Diseases / genetics*, metabolism, physiopathology Muscle Fibers, Skeletal / metabolism, pathology Muscle Hypotonia / genetics, metabolism, physiopathology Muscle, Skeletal / metabolism, pathology, physiopathology Muscular Diseases / genetics*, metabolism, physiopathology Mutation, Missense / genetics* Renal Insufficiency, Acute / genetics, metabolism, physiopathology Ribonucleotide Reductases / genetics* Sequence Homology, Amino Acid |
| Chemical | |
Reg. No./Substance:
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0/Cell Cycle Proteins; 0/DNA, Mitochondrial; 0/Deoxyribonucleotides; 0/Genetic Markers; EC 1.17.4.-/RRM2B protein, human; EC 1.17.4.-/Ribonucleotide Reductases |
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