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Autosomal dominant optic atrophy
ADOA

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Prevalence (%) of clinical parameters based on data from 2 references describing 122 individuals







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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%)
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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:







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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