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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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 |
| Ptosis | nervous | 100 % | 23313956 | 2014-04-25 | |
| Ophthalmoplegia | nervous | 100 % | 23313956 | 2014-04-25 | |
| Muscle weakness | skeletal | 100 % | 23313956 | 2014-04-25 | |
| Myopathy | skeletal | 100 % | 23313956 | 2014-04-25 | |
| Weight loss | multi | 100 % | 23313956 | 2014-04-25 | |
| Exercise intolerance | skeletal | 100 % | 23313956 | 2014-04-25 | |
| Muscle atrophy | skeletal | 100 % | 23313956 | 2014-04-25 | |
| Kyphosis | skeletal | 83 % | 23313956 | 2014-04-25 | |
| Respiratory failure | respiratory | 83 % | 23313956 | 2014-04-25 | |
| Cerebellar atrophy | nervous | 75 % | 23313956 | 2014-04-25 | |
| Mental retardation | nervous | 50 % | 23313956 | 2014-04-25 | |
| Dysphagia | nervous | 50 % | 23313956 | 2014-04-25 | |
| Increased blood CK | circulatory | 33 % | 23313956 | 2014-04-25 | |
| Cerebral atrophy | nervous | 25 % | 23313956 | 2014-04-25 | |
| Ataxia | nervous | 17 % | 23313956 | 2014-04-25 | |
| Cardiac arrhythmia | circulatory | 17 % | 23313956 | 2014-04-25 | |
| Psychiatric symptom | nervous | 17 % | 23313956 | 2014-04-25 |
List of references:
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
Cornelia Kornblum, Thomas J Nicholls, Tobias B Haack, Susanne Schöler, Viktoriya Peeva, Katharina Danhauser, Kerstin Hallmann, Gábor Zsurka, Joanna Rorbach, Arcangela Iuso, Thomas Wieland, Monica Sciacco, Dario Ronchi, Giacomo P Comi, Maurizio Moggio, Catarina M Quinzii, Salvatore DiMauro, Sarah E Calvo, Vamsi K Mootha, Thomas Klopstock, Tim M Strom, Thomas Meitinger, Michal Minczuk, Wolfram S Kunz, Holger Prokisch,
Nature genetics - Feb 2013