A rare de novo mutation, m.1630A>G, in the mitochondrial tRNAVal (MT-TV) gene in a child with epilepsy: case report and review of the literature
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DOI: 10.21037/tp-24-462
Abstract: Background Mitochondrial diseases represent a diverse group of disorders caused by defects in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA), leading to a wide range of clinical manifestations. These diseases can affect multiple organs, particularly… read more here.
Keywords: novo mutation; mutation 1630a; mutation; case ... See more keywords