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Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy

MedGen UID:
503112
Concept ID:
C3502717
Disease or Syndrome
 

Recent clinical studies

Etiology

Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF
Brain 2010 Mar;133(Pt 3):771-86. Epub 2010 Feb 15 doi: 10.1093/brain/awq007. PMID: 20157015Free PMC Article
Pang CY, Huang CC, Yen MY, Wang EK, Kao KP, Chen SS, Wei YH
J Formos Med Assoc 1999 May;98(5):326-34. PMID: 10420700

Diagnosis

Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M
Acta Ophthalmol 2013 May;91(3):e225-31. Epub 2013 Feb 7 doi: 10.1111/aos.12038. PMID: 23387428
Pang CY, Huang CC, Yen MY, Wang EK, Kao KP, Chen SS, Wei YH
J Formos Med Assoc 1999 May;98(5):326-34. PMID: 10420700

Clinical prediction guides

Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M
Acta Ophthalmol 2013 May;91(3):e225-31. Epub 2013 Feb 7 doi: 10.1111/aos.12038. PMID: 23387428

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