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Prevalence (%) of clinical parameters based on data from 2 references describing 5 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Failure to thrive | multi | 100 % | 19138848 | 2011-10-19 | |
| Lactate accumulation | circulatory | 100 % | 17486094 | 2011-10-06 | |
| Feeding difficulties | multi | 100 % | 19138848 | 2011-10-06 | |
| Hypotonia | nervous | 100 % | 19138848 | 2011-10-10 | |
| Death in the first months of life | multi | 100 % | 17486094 | 2011-10-06 | |
| Lactate accumulation | circulatory | 100 % | 19138848 | 2011-10-06 | |
| Hypotonia | nervous | 100 % | 17486094 | 2011-10-10 | |
| Tubulopathy | urinary | 50 % | 19138848 | 2011-10-13 |
List of references:
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.
Gittan Kollberg, Niklas Darin, Karin Benan, Ali-Reza Moslemi, Sigurd Lindal, Már Tulinius, Anders Oldfors, Elisabeth Holme,
Neuromuscular disorders : NMD - Feb 2009
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Alice Bourdon, Limor Minai, Valérie Serre, Jean-Philippe Jais, Emmanuelle Sarzi, Sophie Aubert, Dominique Chrétien, Pascale de Lonlay, Véronique Paquis-Flucklinger, Hirofumi Arakawa, Yusuke Nakamura, Arnold Munnich, Agnès Rötig,
Nature genetics - Jun 2007