Homozygosity (E140K) in <i>SCO2</i> causes delayed infantile onset of cardiomyopathy and neuropathy

Abstract

The clinical spectrum of SCO2 deficiency includes the delayed development of hypertrophic obstructive cardiomyopathy and severe neurogenic muscular atrophy. There is increased copper uptake in patients' fibroblasts indicating that the G1541A mutation effects cellular copper metabolism.