Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA Lys Gene

[摘要] Variation in the mitochondrial tRNALysG variation in the mitochondrial tRNALysG variation to be pathogenic with variable penetrance for our patient’s phenotype, and this variation led to different expressions of nuclear-encoded proteins involved in energy metabolism.

[学科分类] 基础医学

[关键词] A8296G mutation;Leukodystrophy;Mitochondrial proteome;Muscle mitochondria;Sensorineural hearing impairment