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Prevalence (%) of clinical parameters based on data from 2 references describing 122 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 |
| Optic atrophy | nervous | 100 % | 20837821 | 2011-10-18 | |
| Optic atrophy | nervous | 86 % | 20157015 | 2011-10-12 | |
| Hearing loss | nervous | 63 % | 20157015 | 2011-10-12 | |
| Ophthalmoplegia | nervous | 46 % | 20157015 | 2011-10-12 | |
| Myopathy | skeletal | 36 % | 20157015 | 2011-10-12 | |
| Ataxia | nervous | 30 % | 20157015 | 2011-10-12 | |
| Neuropathy | nervous | 30 % | 20157015 | 2011-10-12 |
List of references:
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.
Raffaele Lodi, Caterina Tonon, Maria Lucia Valentino, David Manners, Claudia Testa, Emil Malucelli, Chiara La Morgia, Piero Barboni, Michele Carbonelli, Simone Schimpf, Bernd Wissinger, Massimo Zeviani, Agostino Baruzzi, Rocco Liguori, Bruno Barbiroli, Valerio Carelli,
Archives of neurology - Jan 2011
Multi-system neurological disease is common in patients with OPA1 mutations.
P Yu-Wai-Man, P G Griffiths, G S Gorman, C M Lourenco, A F Wright, M Auer-Grumbach, A Toscano, O Musumeci, M L Valentino, L Caporali, C Lamperti, C M Tallaksen, P Duffey, J Miller, R G Whittaker, M R Baker, M J Jackson, M P Clarke, B Dhillon, B Czermin, J D Stewart, G Hudson, P Reynier, D Bonneau, W Marques, G Lenaers, R McFarland, R W Taylor, D M Turnbull, M Votruba, M Zeviani, V Carelli, L A Bindoff, R Horvath, P Amati-Bonneau, P F Chinnery,
Brain : a journal of neurology - Mar 2010