References
- Blok MJ, Spruijt L, M de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ. (2007). Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. J Med Genet 44:e74
- Chae JH, Lee JS, Kim KJ, Hwang YS, Bonilla E, Tanji K, Hirano M. (2007). A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. Pediatr Res 61:622–4
- Chinnery PF, Elliott C, Green GR, Rees A, Coulthard A, Turnbull DM, Griffiths TD. (2000). The spectrum of hearing loss due to mitochondrial DNA defects. Brain 123:82–92
- Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, et al. (2003). A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology 60:1857–61
- Koopman WJ, Willems PH, Smeitink JA. (2012). Monogenic mitochondrial disorders. N Engl J Med 366:1132–41
- Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, et al. (2004). NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest 114:837–45
- Lim BC, Park JD, Hwang H, Kim KJ, Hwang YS, Chae JH, Cheon JE, Kim IO, et al. (2009). Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. J Child Neurol 24:828–32
- Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG. (2003). Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Ann Neurol 53:128–32
- Liu YP, Ma YY, Wu TF, Wang Q, Kong QP, Wei XQ, Zhang Y, et al. (2012). Mitochondrial respiratory chain complex I deficiency due to 10191T > C mutation in ND3 gene. Chin J Contemp Pediatr 14:561–6
- Ma Y, Fang F, Yang Y, Zou L, Zhang Y, Wang S, Xu Y, et al. (2009). The study of mitochondrial A3243G mutation in different samples. Mitochondrion 9:139–43
- Miceli G, Conti G, Cianfoni A, Di Giacopo R, Zampetti P, Servidei S. (2008). Acute auditory agnosia as the presenting hearing disorder in MELAS. Neurol Sci 29:459–62
- Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S. (2005). Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Arch Neurol 62:473–6
- Nesbitt V, Morrison PJ, Crushell E, Donnelly DE, Alston CL, He L, Mcfarland R, Taylor RW. (2012). The clinical spectrum of the m.10191T > C mutation in complex I-deficient Leigh syndrome. Dev Med Child Neurol 54:500–6
- Pulkes T, Eunson L, Patterson V, Siddiqui A, Wood NW, Nelson IP, Morgan-Hughes JA, Hanna MG. (1999). The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Ann Neurol 46:916–19
- Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V. (2007). A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A 143:33–41
- Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM. (2001). Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann Neurol 50:104–7
- Wang K, Takahashi Y, Gao ZL, Wang GX, Chen XW, Goto J, Lou JN, Tsuji S. (2009). Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. Neurogenetics 10:337–45
- Wang Z, Qi XK, Yao S, Chen B, Luan X, Zhang W, Han M, Yuan Y. (2010). Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G > A mutation, and neuropathological findings in one autopsy case. Neuropathology 30:606–14
- Werner JH, Peter HGM, Jan AM. (2012). Monogenic mitochondrial disorders. N Engl J Med 366:1132–41
- Wilichowski E, Korenke GC, Ruitenbeek W, De Meirleir L, Hagendorff A, Janssen AJ, Lissens W, Hanefeld F. (1998). Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. J Neurol Sci 157:206–13
- Zhao D, Hong D, Zhang W, Yao S, Qi X, Lv H, Zheng R, et al. (2011). Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. J Hum Genet 56:759–64