https://www.selleckchem.com/pr....oducts/bms-265246.ht
Mitochondrial diseases are clinically and genetically heterogeneous disorders, caused by pathogenic variants in either the nuclear or mitochondrial genome. This heterogeneity is particularly striking for disease caused by variants in mitochondrial DNA-encoded tRNA (mt-tRNA) genes, posing challenges for both the treatment of patients and understanding the molecular pathology. In this review, we consider disease caused by the two most common pathogenic mt-tRNA variants m.3243AG (within MT-TL1, encoding mt-tRNALeu(UUR) ) and m.8344A
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