Novel Mutations inSCO1as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

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Abstract

SCO1 is a mitochondrial metallochaperone with essential functions in cytochromecoxidase assembly and the regulation of cellular copper homeostasis. Mutations inSCO1are exceedingly rare, and only two pedigrees had been identified before this study. Unlike earlier pedigrees, which expressed distinct allelic variants of SCO1 (P174L, G132S), the patient we describe here harbored a novel M294V missense mutation and presented with a fatal encephalopathy, the third unique clinical course of disease associated withSCO1mutations

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