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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 |
| Ophthalmoplegia | nervous | 100 % | 26094573 | 2017-03-03 | |
| Ataxia | nervous | 100 % | 26094573 | 2017-03-03 | |
| Cerebellar atrophy | nervous | 100 % | 26094573 | 2017-03-03 | |
| Ragged red fibres | skeletal | 100 % | 26094573 | 2017-03-03 | |
| Muscle atrophy | nervous | 100 % | 26094573 | 2017-03-03 | |
| Muscle weakness | nervous | 100 % | 26094573 | 2017-03-03 | |
| Dysphagia | nervous | 100 % | 26094573 | 2017-03-03 | |
| Neuropathy | nervous | 100 % | 26094573 | 2017-03-03 |
List of references:
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Aurelio Reyes, Laura Melchionda, Alessia Nasca, Franco Carrara, Eleonora Lamantea, Alice Zanolini, Costanza Lamperti, Mingyan Fang, Jianguo Zhang, Dario Ronchi, Sara Bonato, Gigliola Fagiolari, Maurizio Moggio, Daniele Ghezzi, Massimo Zeviani,
American journal of human genetics - Jul 2015