Hepatocerebral Mitochondrial DNA Depletion

Authors

J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-19-8-2

Keywords:

Hepatocerebral Mitochondrial DNA Depletion, Deoxyguanosine Kinase, Nystagmus

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.

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Published

2005-08-01

Issue

Vol 19, No 08 | Aug 2005

Section

Mitochondrial Cytopathies

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