Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene
Sign Up to like & getrecommendations! Published in 2019 at "Neonatology"
DOI: 10.1159/000499488
Abstract: The cytochrome C oxidase assembly protein SCO1 gene encodes a mitochondrial protein essential for the mammalian energy metabolism. Only three pedigrees of SCO1mutations have thus far been reported. They all presented with lactate acidosis and… read more here.
Keywords: disease caused; sco1 gene; mitochondrial disease; gene ... See more keywords