PTCD3 mutations cause Leigh-like rather than Leigh syndrome

Finsterer Josef; Scorza Carla A.; Scorza Fulvio A.

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PTCD3 mutations cause Leigh-like rather than Leigh syndrome

机译：PTCD3突变导致Leigh的而不是Leigh综合征

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来源
《Neurogenetics》 |2019年第1期|共2页
作者
Finsterer Josef; Scorza Carla A.; Scorza Fulvio A.;
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作者单位

Vet Univ Vienna Messerli Inst Krankenanstalt Rudolfstiftung Postfach 20 A-1180 Vienna Austria;

Univ Fed Sao Paulo Disciplina Neurociencia Escola Paulista Med UNIFESP Sao Paulo Brazil;

Univ Fed Sao Paulo Disciplina Neurociencia Escola Paulista Med UNIFESP Sao Paulo Brazil;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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1. PTCD3 mutations cause Leigh-like rather than Leigh syndrome [J] . Finsterer Josef, Scorza Carla A., Scorza Fulvio A. Neurogenetics . 2019,第1期

机译：PTCD3突变导致Leigh的而不是Leigh综合征
2. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1 [J] . SarigO., GoldsherD., NousbeckJ., American journal of medical genetics, Part A . 2013,第9期

机译：婴儿线粒体肝病是由SeraC1的新突变引起的Megdel综合征（3-甲基戊脲型IV型IV型IV型患有感觉耳聋，脑病和Leigh样综合征）的主要特征
3. Optic atrophy and a leigh-like syndrome due to mutations in the C12orf65 gene: Report of a novel mutation and review of the literature [J] . HeidaryG., CalderwoodL., CoxG.F., Journal of neuro-ophthalmology: Official journal of the North American Neuro-Ophthalmology Society . 2014,第1期

机译：由于C12orf65基因突变而导致的视神经萎缩和leigh综合征：一种新型突变的报道和文献综述
4. LMNA mutations in progeroid syndromes [C] . Shurong Huang, Brian K. Kennedy, Junko Oshim Novartis Foundation symposium on Nuclear organization in development and disease . 2005

机译：Pro-opid综合征中的LMNA突变
5. Identifying candidate genes for a mutation that suppresses neurodegeneration in the Drosophila model of Leigh syndrome [D] . Quach, Quang 2012

机译：在李氏综合征果蝇模型中鉴定抑制神经变性的突变的候选基因
6. Corrigendum: Cinical Metabolic and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome [O] . Junling Wang, Zhimei Liu, Manting Xu, 2021

机译：勘误表：用Leigh / Leigh样综合征患有患有肝癌突变的杂志代谢和遗传分析和后续患者
7. Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome [O] . Junling Wang, Zhimei Liu, Manting Xu, 2021

机译：患有Leigh / Leigh样综合征的高突变患者的临床，代谢和遗传分析及八位患者的随访

PTCD3 mutations cause Leigh-like rather than Leigh syndrome

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