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Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations.
Neurology Genetics ( IF 3.1 ) Pub Date : 2020-10-01 , DOI: 10.1212/nxg.0000000000000488 Edoardo Monfrini 1 , Dario Ronchi 1 , Giulia Franco 1 , Manuela Garbellini 1 , Letizia Straniero 1 , Elisa Scola 1 , Federica Arienti 1 , Stefano Duga 1 , Giacomo Pietro Comi 1 , Nereo Bresolin 1 , Alessio Di Fonzo 1
中文翻译：
隐性EARS2突变患者的晚发性白质脑病。
更新日期：2020-07-14
Neurology Genetics ( IF 3.1 ) Pub Date : 2020-10-01 , DOI: 10.1212/nxg.0000000000000488 Edoardo Monfrini 1 , Dario Ronchi 1 , Giulia Franco 1 , Manuela Garbellini 1 , Letizia Straniero 1 , Elisa Scola 1 , Federica Arienti 1 , Stefano Duga 1 , Giacomo Pietro Comi 1 , Nereo Bresolin 1 , Alessio Di Fonzo 1
Affiliation
Mitochondrial aminoacyl-transfer RNA (tRNA) synthetases catalyze the attachment of specific amino acids to their cognate tRNA, enabling intramitochondrial protein synthesis. Recessive mutations in their coding nuclear genes are associated with heterogeneous clinical presentations, often displaying leukoencephalopathy.1
中文翻译：
隐性EARS2突变患者的晚发性白质脑病。
线粒体氨基酰基转移RNA（tRNA）合成酶催化特定氨基酸与其同源tRNA的结合，从而实现线粒体内蛋白的合成。它们的编码核基因中的隐性突变与异质临床表现有关，通常表现为白脑病。1个
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