新发线粒体 <i>ND3</i> 基因突变导致线粒体脑肌病伴高乳酸血症和卒中样发作综合征及肌张力障碍一例 _Journal of Epilepsy

Authors：

 胡玮冰 ¹ , 欧阳梅 ² , 李花 ²

1. ;
2. ;

Corresponding author：

胡玮冰, Email: 18469055@qq.com

Keywords：

DOI：

10.7507/2096-0247.20180074

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Citation： 胡玮冰, 欧阳梅, 李花. 新发线粒体 ND3 基因突变导致线粒体脑肌病伴高乳酸血症和卒中样发作综合征及肌张力障碍一例 . Journal of Epilepsy, 2018, 4(5): 461-464. doi: 10.7507/2096-0247.20180074 Copy

1.	Blakely EL, de Silva R, King A, et al. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. Eur J Hum Genet, 2005, 13(5): 623-627.
2.	魏妍平, 崔丽英, 彭斌. ND3 基因突变导致的线粒体脑肌病重叠综合征二例. 脑与神经疾病杂志, 2016, 24(10): 626-630.
3.	Lertrit P, Noer AS, Jean-Francois, et al. A new disease-related mutation for mitochondrial encephalopathy lactic acidosisand strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratorycomplex I. Am J Hum Genet, 1992, 51(3): 457-468.
4.	Crimi M, Galbiati S, Moroni I, et al. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology, 2003, 60(11): 1857-1861.
5.	Ravn K, Wibrand F, Hansen FJ, et al. An mtDNAmutation14453G-Ain the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur J Hum Genet, 2001, 9(10): 805-809.
6.	Klaus GEW, Chantal FM, Adam K, et al. Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations. Pediatr Neurol, 2009, 41(1): 27-33.
7.	Wang K, Takahashi YJ, Gao ZL, et al. Mitochondrial ND3 as the novel causative gene for leber hereditary optic neuropathy and dystonia. Neurogenetics, 2009, 10(4): 337-345.
8.	David KM, Minal JM, Cas S, et al. Rapid identification of a novel complex I MT-ND3 m.0134C>A mutation in a Leigh syndrome patient. PloS ONE, 2014, 9(8): e104879.
9.	Emmanuelle S, Michael DB, Sophie L, et al. 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, 2007, 143A(1): 33-41.
10.	Grosso S, Carluccio MA, Cardaioli E, et al. Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum. Brain Dev, 2017, 39(3): 261-265.
11.	Goto Y, Horai S, Matsuoka T, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like eposiodes (MELAS): a correlative study of the clinical features and motichonadrial DNA mutation. Neurology, 1992, 42(3): 545-550.
12.	Stenqvist L, Paetau A, Valanne L, et al. A juvenile case of MELAS with T3271C mitochondrial DNA mutation. Pediatr Res, 2005, 58(2): 258-262.
13.	de Coo IF, Sistermans EA, de Wijs IJ, et al. A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes. Neurology, 1998, 50(1): 293-295.
14.	Campos Y, Lorenzo G, Martin MA, et al. A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes. Neuromuscul Disord, 2000, 10(7): 493-496.
15.	吴江, 贾建平. 神经病学, 第 3 版. 北京: 人民卫生出版社, 2017: 440-444.

1. Blakely EL, de Silva R, King A, et al. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. Eur J Hum Genet, 2005, 13(5): 623-627.
2. 魏妍平, 崔丽英, 彭斌. ND3 基因突变导致的线粒体脑肌病重叠综合征二例. 脑与神经疾病杂志, 2016, 24(10): 626-630.
3. Lertrit P, Noer AS, Jean-Francois, et al. A new disease-related mutation for mitochondrial encephalopathy lactic acidosisand strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratorycomplex I. Am J Hum Genet, 1992, 51(3): 457-468.
4. Crimi M, Galbiati S, Moroni I, et al. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology, 2003, 60(11): 1857-1861.
5. Ravn K, Wibrand F, Hansen FJ, et al. An mtDNAmutation14453G-Ain the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur J Hum Genet, 2001, 9(10): 805-809.
6. Klaus GEW, Chantal FM, Adam K, et al. Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations. Pediatr Neurol, 2009, 41(1): 27-33.
7. Wang K, Takahashi YJ, Gao ZL, et al. Mitochondrial ND3 as the novel causative gene for leber hereditary optic neuropathy and dystonia. Neurogenetics, 2009, 10(4): 337-345.
8. David KM, Minal JM, Cas S, et al. Rapid identification of a novel complex I MT-ND3 m.0134C>A mutation in a Leigh syndrome patient. PloS ONE, 2014, 9(8): e104879.
9. Emmanuelle S, Michael DB, Sophie L, et al. 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, 2007, 143A(1): 33-41.
10. Grosso S, Carluccio MA, Cardaioli E, et al. Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum. Brain Dev, 2017, 39(3): 261-265.
11. Goto Y, Horai S, Matsuoka T, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like eposiodes (MELAS): a correlative study of the clinical features and motichonadrial DNA mutation. Neurology, 1992, 42(3): 545-550.
12. Stenqvist L, Paetau A, Valanne L, et al. A juvenile case of MELAS with T3271C mitochondrial DNA mutation. Pediatr Res, 2005, 58(2): 258-262.
13. de Coo IF, Sistermans EA, de Wijs IJ, et al. A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes. Neurology, 1998, 50(1): 293-295.
14. Campos Y, Lorenzo G, Martin MA, et al. A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes. Neuromuscul Disord, 2000, 10(7): 493-496.
15. 吴江, 贾建平. 神经病学, 第 3 版. 北京: 人民卫生出版社, 2017: 440-444.

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新发线粒体 ND3 基因突变导致线粒体脑肌病伴高乳酸血症和卒中样发作综合征及肌张力障碍一例

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