41 research outputs found
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis
No full textPathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy
No full textPronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
No full textHuman mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations
Get PDFMutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy
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Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features
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Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations
No full text
