A Case of Acute Bilateral Ptosis: SURF-1 Mutation

References (5)

1. Rossi A, Biancheri R, Bruno C, Di Rocco M, Calvi A, Pessagno A, TortoriDonati P. Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol 2003;24:1188-1191
2. Bosemani T, Anghelescu C, Boltshauser E, Hoon AH Jr, Pearl PL, Craiu D, Johnston MV, Huisman TA, Poretti A. Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. Eur J Paediatr Neurol 2014;18:249-256
3. Ogawa E, Shimura M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Mori M, Kohda M, Kishita Y, Okazaki Y, Takahashi S, Ohtake A, Murayama K. Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. J Inherit Metab Dis 2017;40:685-693
4. Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343-351
5. Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF. New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol 2013;9:474-481.