Clinical and Biochemical Diagnosis in Children with Leigh Syndrome
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Lee, Sun Ho
(Departments of Pediatrics, Yonsei University College of Medicine)
Jeon, Mina (Departments of Pediatrics, Yonsei University College of Medicine) Lee, Hyun Joo (Departments of Pediatrics, Yonsei University College of Medicine) Park, Dae Young (Kojan Yonsei Pediatric Clinic) Kim, Se Hoon (Departments of Pathology, Yonsei University College of Medicine) Lee, Young-Mock (Departments of Pediatrics, Yonsei University College of Medicine) |
1 | Leigh D. Subacute necrotizing encephaloinyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951; 14:216-21. DOI |
2 | Pincus JH. Subacute necrotizing encephalomyelopathy (Leigh's disease): a consideration of clinical features and etiology. Dev Med Child Neurol 1972; 14:87-101. |
3 | van Erven PM, Cillessen JP, Eekhoff EM, Gabreëls FJ, Doesburg WH, Lemmens WA, et al. Leigh syndrome, a niitochondrial encephalo(myo)pathy. A review of the literature. Clin Neurol Neurosurg 1987;89:217-30. DOI |
4 | van Erven PM, Gabreels FJ, Ruitenbeek W, Renier WO, Fischer JC. Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency. Arch Neurol 1987;44:775-8. DOI |
5 | Piao YS, Tang GC, Yang H, Lu DH. Clinico-neuropathological study of a Chinese case of familial adult Leigh syndrome. Neuropathology 2006;26: 218-21. DOI |
6 | Benit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S et al. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet 2004;41:14-7. DOI |
7 | Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 2008;39:223-35. DOI |
8 | Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D et al. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Ann Neurol 2003;54:473-8. DOI |
9 | Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, et al. Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343-51. DOI |
10 | Zheng X, Shoffner JM, Voljavec AS, Wallace DC. Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. Biochim Biophys Acta 1990;1019:1-10. DOI |
11 | Bindoff LA, Desnuelle C, Birch-Machin MA, Pellissier JF, Serratrice G, Dravet C, et al. Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF)-a clinical, biochemical and molecular study. J Neurol Sci 1991; 102:17-24. DOI |
12 | Rustin P, Chretien D, Bourgeron T, Gerard B, Rotig A, Saudubray JM, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994;228:35-51. DOI |
13 | Skladal D, Sudmeier C, Konstantopoulou V, Stöckler- Ipsiroglu S, Plecko-Startinig B, Bernert G, et al. The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients. Clin Pediatr 2003;42:703- 10. DOI |
14 | Jareno NM, Fernandez-Mayoralas DM, Silvestre CP, Cortes BM, Perez MU, Campos-Castello J. 3-Methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings. J Child Neurol 2007; 22:218-21. DOI |
15 | Makino M, Horai S, Goto Y, Nonaka I. Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. Neuromuscul Disord 1998;8: 149-51. DOI |
16 | Martin MA, Blazquez A, Gutierrez-Solana LG, Fernandez-Moreira D, Briones P, Andreu AL, et al. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Arch Neurol 2005;62:659-61. DOI |
17 | Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, et al. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007;130: 853-61. DOI |
18 | Benit P, Chretien D, Kadhom N, de Lonlay- Debeney P, Cormier-Daire V, Cabral A, et al. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet 2001; 68:1344-52. DOI |
19 | Van Maldergem L, Trijbels F, DiMauro S, Sindelar PJ, Musumeci O, Janssen A, et al. Coenzyme Qresponsive Leigh's encephalopathy in two sisters. Ann Neurol 2002;52:750-4. DOI |
20 | Lopez LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 2006;79:1125-9. DOI |
21 | Martin E, Burger R, Wiestler OD, Caduff R, Boltshauser E, Boesch C. Brainstem lesion revealed by MRI in a case of Leigh's disease with respiratory failure. Pediatr Radiol 1990;20:349-50. DOI |
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