相似文献
1
Only Pathogenic SURF-1 Variants Cause Leigh Syndrome.仅致病性SURF-1变体可导致 Leigh 综合征。
Ann Indian Acad Neurol. 2022 Mar-Apr;25(2):304. doi: 10.4103/aian.aian_673_21. Epub 2021 Oct 22.
2
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.SURF-1功能丧失突变与细胞色素c氧化酶缺乏的Leigh综合征特异性相关。
Ann Neurol. 1999 Aug;46(2):161-6. doi: 10.1002/1531-8249(199908)46:2<161::aid-ana4>3.0.co;2-o.
3
MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.伴有细胞色素c氧化酶缺乏和SURF-1突变的Leigh综合征的磁共振成像表现
AJNR Am J Neuroradiol. 2002 Aug;23(7):1095-100.
4
Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.伴有SURF-1突变和细胞色素C氧化酶缺乏的Leigh综合征中的面部畸形。
Pediatr Neurol. 2006 Jun;34(6):486-9. doi: 10.1016/j.pediatrneurol.2005.10.020.
5
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.一名携带新型C12orf65致病变异的患者患 Leigh 综合征：病例报告及文献综述
Genet Mol Biol. 2020 May 29;43(2):e20180271. doi: 10.1590/1678-4685-GMB-2018-0271. eCollection 2020.
6
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.两个COX装配基因SURF-1和SCO2发生突变的患者的差异特征。
Ann Neurol. 2000 May;47(5):589-95.
7
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.两个复合体 I 基因中的双等位基因变异导致轻度 Leigh 综合征患者出现异常剪接缺陷。
Mol Genet Metab. 2020 Sep-Oct;131(1-2):98-106. doi: 10.1016/j.ymgme.2020.09.008. Epub 2020 Oct 14.
8
m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.m.3685T>C 是一种引起 Leigh 综合征的新型线粒体 DNA 变异。
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2). doi: 10.1101/mcs.a006136. Print 2022 Feb.
9
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.正常和疾病状态下SURF-1表达及Surf-1p功能的表征
Hum Mol Genet. 1999 Dec;8(13):2533-40. doi: 10.1093/hmg/8.13.2533.
10
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.NDUFAF8 中的致病变异纯合突变导致伴有复合体 I 缺陷的 Leigh 综合征。
Am J Hum Genet. 2020 Jan 2;106(1):92-101. doi: 10.1016/j.ajhg.2019.12.001. Epub 2019 Dec 19.
本文引用的文献
1
Leigh Syndrome and SURF1 Gene Presenting with Febrile Seizure.伴发热性惊厥的 Leigh 综合征与 SURF1 基因
Ann Indian Acad Neurol. 2021 Mar-Apr;24(2):251-252. doi: 10.4103/aian.AIAN_567_20. Epub 2020 Dec 1.
2
related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.相关 Leigh 综合征：来自土耳其的 16 例患者的临床及分子学发现
Mol Genet Metab Rep. 2020 Oct 23;25:100657. doi: 10.1016/j.ymgmr.2020.100657. eCollection 2020 Dec.
3
Facial Dysmorphism, Hirsutism, and Failure to Thrive as Manifestation of Leigh Syndrome in a Child with Mutation.面部畸形、多毛症及生长发育迟缓作为一名患有突变的儿童 Leigh 综合征的表现
J Pediatr Neurosci. 2020 Apr-Jun;15(2):108-110. doi: 10.4103/jpn.JPN_137_18. Epub 2020 Jun 27.
4
SURF1-associated Leigh syndrome: a case series and novel mutations.SURF1 相关 Leigh 综合征：病例系列及新突变。
Hum Mutat. 2012 Aug;33(8):1192-200. doi: 10.1002/humu.22095. Epub 2012 Apr 30.
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