Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.
Lin Y, Wang J, Ren H, Ma X, Wang W, Zhao Y, Xu Z, Liu S, Wang W, Xu X, Wang B, Zhao D, Wang D, Li W, Liu F, Zhao Y, Lu J, Yan C, Ji K.
J Neurol. 2024 Feb;271(2):864-876. doi: 10.1007/s00415-023-12005-5. Epub 2023 Oct 17.
Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Chinnery PF.
2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.
J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.
Mitochondrial myopathies.
DiMauro S.
Curr Opin Rheumatol. 2006 Nov;18(6):636-41. doi: 10.1097/01.bor.0000245729.17759.f2.
Extraocular mitochondrial myopathies and their differential diagnoses.
Schoser BG, Pongratz D.
Strabismus. 2006 Jun;14(2):107-13. doi: 10.1080/09273970600701218.
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.
Montano V, Lopriore P, Gruosso F, Carelli V, Comi GP, Filosto M, Lamperti C, Mongini T, Musumeci O, Servidei S, Tonin P, Toscano A, Primiano G, Valentino ML, Bortolani S, Marchet S, Ricci G, Modenese A, Cotti Piccinelli S, Risi B, Meneri M, Arena IG, Siciliano G, Mancuso M.
J Neurol. 2022 Dec;269(12):6555-6565. doi: 10.1007/s00415-022-11324-3. Epub 2022 Aug 18.
The expanding phenotype of mitochondrial myopathy.
DiMauro S, Gurgel-Giannetti J.
Curr Opin Neurol. 2005 Oct;18(5):538-42. doi: 10.1097/01.wco.0000179761.63486.1a.
Ptosis Correction.
Koka K, Patel BC.
2023 Jul 10. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Ocular myopathies.
Tomé FM, Fardeau M.
Pathol Res Pract. 1985 Jul;180(1):19-27. doi: 10.1016/S0344-0338(85)80070-4.
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D.
Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46.
