新發線粒體 <i>ND3</i> 基因突變導致線粒體腦肌病伴高乳酸血癥和卒中樣發作綜合征及肌張力障礙一例 _Journal of Epilepsy

Authors：

 胡瑋冰 ¹ , 歐陽梅 ² , 李花 ²

1. ;
2. ;

Corresponding?author：

胡瑋冰, Email: 18469055@qq.com

Keywords：

DOI：

10.7507/2096-0247.20180074

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Citation： 胡瑋冰, 歐陽梅, 李花. 新發線粒體 ND3 基因突變導致線粒體腦肌病伴高乳酸血癥和卒中樣發作綜合征及肌張力障礙一例 . 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, 崔麗英, 彭斌. ND3 基因突變導致的線粒體腦肌病重疊綜合征二例. 腦與神經疾病雜志, 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.	吳江, 賈建平. 神經病學, 第 3 版. 北京: 人民衛生出版社, 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, 崔麗英, 彭斌. ND3 基因突變導致的線粒體腦肌病重疊綜合征二例. 腦與神經疾病雜志, 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. 吳江, 賈建平. 神經病學, 第 3 版. 北京: 人民衛生出版社, 2017: 440-444.

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Journal of Epilepsy

新發線粒體 ND3 基因突變導致線粒體腦肌病伴高乳酸血癥和卒中樣發作綜合征及肌張力障礙一例

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