Abstract：
OBJECTIVE: The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy.
METHODS: The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy.
CONCLUSIONS: We aimed to expand the clinical spectrum of pathogenic variants of TUFM.
METHODS: The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy.
CONCLUSIONS: We aimed to expand the clinical spectrum of pathogenic variants of TUFM.
摘要：
目的：线粒体延伸因子Tu（EF-Tu），由TUFM基因编码，是一种GTPase,这是线粒体蛋白质翻译机制的一部分。如果它被激活，它将氨酰基tRNA传递到线粒体核糖体。这里,在TUFM中描述了一名患者的纯合错义变异[c.1012G>A（p。Arg339Gln)]基因。迄今为止,在TUFM中，只有6例患者被报道具有双等位基因致病变异，导致以严重的早发性乳酸性酸中毒为特征的联合氧化磷酸化缺陷4（COXPD4），脑病,和心肌病。
方法：本文介绍的患者具有TUFM相关疾病的表型特征，乳酸性酸中毒,低张力,肝功能障碍,视神经萎缩,和轻度脑病.
结论：我们旨在扩大TUFM致病变异的临床范围。
方法：本文介绍的患者具有TUFM相关疾病的表型特征，乳酸性酸中毒,低张力,肝功能障碍,视神经萎缩,和轻度脑病.
结论：我们旨在扩大TUFM致病变异的临床范围。
