Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA- targeted next-generation sequencing
نویسندگان
چکیده
in the mitochondrial DNA (mtDNA) that lead to oxidative phosphorylation impairment, ATP depletion, cellular dysfunction, and ultimately cell death [1]. Most mitochondrial diseases involve impairment of multiple organs, particularly in tissues with a high energy demand such as nerve and muscle. Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNAtargeted next-generation sequencing
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