Hepatocerebral Mitochondrial DNA Depletion

Abstract

Two novel homozygous mutations, G352A and C269T, are documented in the gene for deoxyguanosine kinase (DGK) in 3 children with hepatocerebral mitochondrial DNA depletion syndrome reported from Columbia University College of Physicians and Surgeons, New York; University of Pisa, Italy; University of Toronto, Canada; and University of Melbourne, Australia.

Keywords

• hepatocerebral mitochondrial dna depletion
• deoxyguanosine kinase
• nystagmus