Blood cell respiration rates and mtDNA copy number: a promising tool for the diagnosis of mitochondrial disease.
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DOI: 10.1016/j.mito.2021.09.004
Abstract: Human mitochondrial diseases are a group of heterogeneous diseases caused by defects in oxidative phosphorylation, due to mutations in mitochondrial (mtDNA) or nuclear DNA. The diagnosis of mitochondrial disease is challenging since mutations in multiple… read more here.
Keywords: mitochondrial function; disease; number; diagnosis mitochondrial ... See more keywords