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MT-TY: MT-TY is a gene that codes for tRNA Tyrosine and is located between MT-TA and MT-TC in the mitochondrial genome [PMC8727539]. Mutations in the MT-TY gene have been reported and are associated with various clinical phenotypes, including chronic external ophthalmoplegia and cardiomyopathy [PMC6311237]. One specific variant, m.5860delTA, has been identified and its effects on mitochondrial function were investigated using patient skeletal muscle tissue [PMC7477489]. The study utilized quantitative fluorescent immunohistochemistry, western blotting, and BN-PAGE analysis to assess the expression of OXPHOS subunits and fully-assembled complexes. The results of this analysis revealed a novel m.5860delTA MT-TY gene variant that presented with childhood-onset mitochondrial myopathy characterized by ophthalmoplegia, ptosis, exercise intolerance, bulbar dysfunction, and nocturnal hypoventilation [PMC7477489]. This study highlights the importance of understanding the genetic basis of mitochondrial diseases such as myopathy to improve diagnosis and treatment strategies for affected individuals.
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