Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review

Biallelic pathogenic variants in the TARS2 gene cause combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), which is a rare mitochondrial encephalomyopathy (ME) characterized by early‐onset severe axial hypotonia, limb hypertonia, delayed psychomotor development, epilepsy...

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Veröffentlicht in:	American journal of medical genetics. Part A 2023-01, Vol.191 (1), p.70-76
Hauptverfasser:	He, Peiqing, Wang, Qingming, Hong, Xiaochun, Yuan, Haiming
Format:	Artikel
Sprache:	eng
Schlagworte:	Corpus callosum COXPD21 Dystonia East Asian People Epilepsy Exome Sequencing Female Fetuses Genetic counseling Genotypes Humans Lactic acid Mitochondria Mitochondrial Encephalomyopathies - genetics mitochondrial encephalomyopathy Mutation Neuroimaging Oxidative phosphorylation Patients Phenotype Phenotypes Phosphorylation TARS2
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