Mitochondrial disease associated with m.3243A>G mutation in MT-TL1 gene#br# #br# PDF 475 摘要/Abstract 摘要: 青年女性患者,慢性起病,临床表现为多系统损害。肾脏损害表现为少至中等量尿蛋白,尿隐血基本阴性,血清肌酐正常,高尿酸血症,血压正常,无贫血。肾外表现身材矮小、糖尿病、高频听力下降及预激...
For another gene MT-TL1, a highly conservative novel mutation which is located closely next to the anticodon also might contribute to asthenospermia. Our result suggests that the MT-ND4 and MT-TL1 genes might be associated with Chinese male infertility....
thepossibilityofMDMshouldbeconsideredanditcanbefurtherconfirmedbymitochondrialDNA MTGTL1genedetection.KEY WORDS : mitochondria ; diabetesmellitus ; maternalinheritance ; MTGTL1gene 线粒体糖尿病( mitochondrialdiabetesmelliG tus , MDM )是一组由于线粒体呼吸链和氧化磷酸化1 9南昌大学学报(医学版) 2021 年第...
The MT-TL1 gene encodes mitochondrial tRNA leucine 1 (UUA/G), which adds the amino acid leucine to the growing polypeptide chain of mtDNA-encoded subunits during translation. From:Handbook of Clinical Neurology,2023 Discover other topics
The A3243G mutation in the MT-TL1 gene of mitochondrial DNA contributes to pathogenesis of this case.Xiong PengDepartment of Respiratory and Critical Care... X Peng,LX Ma,C Xiao,... - 《Heliyon》 被引量: 0发表: 2023年 Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosi...
Mitochondrial genetic testing revealed an A3243G mutation in the MT-TL1 gene, which is a mitochondrial encoded transfer RNA-leucine molecule. Conclusions Mitochondrial disease should be considered in patients presenting with unexplained cardiomyopathy and skeletal muscle, cerebral, or metabolic abnormalities...
Giant Ring Mitochondria in a Patient With Heart Failure and Cerebral White Matter Disease Resulting From an MT-TL1 Mitochondrial Gene MutationCardiomyopathymitochondrial diseasemitochondrial geneticsring mitochondriaBackground: The presence of giant ring mitochondria on endomyocardial biopsy is rarely reported ...
Molecular testing of the children confirmed the presence of an m.3303C>T point mutation in the mitochondrial DNA in the MT-TL1 gene, which was also present in their oligosymptomatic mother and their mother’s sister, an asymptomatic carrier. Keywords: cardiomyopathy; lactic acidosis; ...