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A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes.

作者信息

Zaganas Ioannis, Latsoudis Helen, Papadaki Eufrosini, Vorgia Pelagia, Spilioti Martha, Plaitakis Andreas

出版信息

J Neurol. 2009 Feb;256(2):271-3. doi: 10.1007/s00415-009-0921-3. Epub 2009 Feb 27.

DOI:10.1007/s00415-009-0921-3
PMID:19253012
Abstract
摘要

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1
A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes.与复发性脑干卒中样发作相关的A8344G赖氨酸转运RNA突变
J Neurol. 2009 Feb;256(2):271-3. doi: 10.1007/s00415-009-0921-3. Epub 2009 Feb 27.
2
The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders.与抑郁情绪障碍相关的线粒体DNA典型MERRF（A8344G）突变。
J Neurol. 2009 Feb;256(2):264-5. doi: 10.1007/s00415-009-0841-2. Epub 2009 Mar 5.
3
Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys.与tRNALys中A8344G突变相关的中枢和周围神经系统脱髓鞘疾病。
Neuromuscul Disord. 2009 Apr;19(4):275-8. doi: 10.1016/j.nmd.2009.01.012. Epub 2009 Mar 9.
4
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.由tRNALys中A8344G突变（线粒体肌阵挛性癫痫伴破碎红纤维综合征）引起的帕金森综合征、神经病变和肌病。
Neurology. 2007 Jan 2;68(1):56-8. doi: 10.1212/01.wnl.0000250334.48038.7a.
5
The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.线粒体DNA中的A8344G突变与类中风发作和胃肠功能障碍相关。
Acta Neuropathol. 2003 Jan;105(1):69-75. doi: 10.1007/s00401-002-0604-y. Epub 2002 Sep 7.
6
A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome.线粒体DNA的A8344G突变与伴有乳酸性酸中毒和卒中样发作综合征的典型线粒体脑肌病相关。
Ideggyogy Sz. 2011 Nov 30;64(11-12):399-403.
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Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.魁北克沙勒沃伊-萨格奈痉挛性共济失调的假显性遗传。
Neurology. 2010 Apr 6;74(14):1152-4. doi: 10.1212/WNL.0b013e3181d7d8a0.
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The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.线粒体tRNALys基因中MERRF替代G8361A的突变谱扩展
Ann Neurol. 2003 Dec;54(6):820-3. doi: 10.1002/ana.10753.
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Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report.
Mov Disord. 2008 Jun 15;23(8):1191-2. doi: 10.1002/mds.21990.
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MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.MERRF/MELAS 重叠综合征：线粒体 tRNA 基因的双重致病性突变。
J Med Genet. 2010 Oct;47(10):659-64. doi: 10.1136/jmg.2009.072058. Epub 2010 Jul 7.

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Genetic causes of acute encephalopathy in adults: beyond inherited metabolic and epileptic disorders.成人急性脑病的遗传学病因：超越遗传性代谢和癫痫性疾病。
Neurol Sci. 2022 Mar;43(3):1617-1626. doi: 10.1007/s10072-022-05899-y. Epub 2022 Jan 22.
2
Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation.由m.8344A>G tRNA（Lys）突变引起的伴有破碎红纤维综合征的晚发性肌阵挛性癫痫中的银屑病、球部受累和腹泻。
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Gastrointestinal manifestations of mitochondrial disorders: a systematic review.

本文引用的文献

1
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.由tRNALys中A8344G突变（线粒体肌阵挛性癫痫伴破碎红纤维综合征）引起的帕金森综合征、神经病变和肌病。
Neurology. 2007 Jan 2;68(1):56-8. doi: 10.1212/01.wnl.0000250334.48038.7a.
2
Mitochondrial disease.线粒体疾病
Lancet. 2006 Jul 1;368(9529):70-82. doi: 10.1016/S0140-6736(06)68970-8.
3
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.一名具有线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）及肌阵挛性癫痫伴破碎红纤维（MERRF）临床特征的患者出现新型线粒体DNA ND5突变。
线粒体疾病的胃肠道表现：一项系统综述。
Therap Adv Gastroenterol. 2017 Jan;10(1):142-154. doi: 10.1177/1756283X16666806. Epub 2016 Oct 6.
4
"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.肌-心肌病通常与A8344G“肌阵挛性癫痫伴破碎红纤维病（MERRF）”突变相关。
J Neurol. 2015 Mar;262(3):701-10. doi: 10.1007/s00415-014-7632-0. Epub 2015 Jan 6.
Arch Neurol. 2005 Mar;62(3):473-6. doi: 10.1001/archneur.62.3.473.
4
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.在MELAS/MERFF表型中发现一种新的线粒体DNA突变（G12147A）。
Arch Neurol. 2004 Feb;61(2):269-72. doi: 10.1001/archneur.61.2.269.
5
Mitochondrial respiratory-chain diseases.线粒体呼吸链疾病
N Engl J Med. 2003 Jun 26;348(26):2656-68. doi: 10.1056/NEJMra022567.
6
The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.线粒体DNA中的A8344G突变与类中风发作和胃肠功能障碍相关。
Acta Neuropathol. 2003 Jan;105(1):69-75. doi: 10.1007/s00401-002-0604-y. Epub 2002 Sep 7.
7
Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres.单个肌纤维中tRNA（Lys）A8344G突变的阈值表达。
Neuromuscul Disord. 1998 Jun;8(5):345-9. doi: 10.1016/s0960-8966(98)00029-7.
8
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）及肌阵挛性癫痫伴破碎红纤维病（MERRF）的分子病理学。突变负荷与临床表型之间的关系。
Brain. 1997 Oct;120 ( Pt 10):1713-21. doi: 10.1093/brain/120.10.1713.
9
Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.与线粒体DNA 3243 tRNA(Leu(UUR))突变相关的散发性肌阵挛性癫痫伴破碎红纤维/线粒体脑肌病伴乳酸酸中毒及卒中样发作重叠综合征
Muscle Nerve. 1996 Feb;19(2):187-90. doi: 10.1002/(SICI)1097-4598(199602)19:2<187::AID-MUS10>3.0.CO;2-S.
10
The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.线粒体DNA转运RNA（赖氨酸）A→G（8344）突变与肌阵挛性癫痫伴破碎红纤维综合征（MERRF）。临床表型与突变型线粒体DNA比例的关系。
Brain. 1993 Jun;116 ( Pt 3):617-32. doi: 10.1093/brain/116.3.617.