Hepatocerebral Mitochondrial DNA Depletion

J Gordon Millichap

doi:10.15844/pedneurbriefs-19-8-2

Hepatocerebral Mitochondrial DNA Depletion

Pediatric Neurology Briefs

Volume 19 (2005): Issue 8

By: J Gordon Millichap

Open Access

|Aug 2005

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.

References

Mancuso M Ferraris S Pancrudo J Feigenbaum A Raiman J Christodoulou J New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome Arch Neurol 2005 May 62 5 745 747 10.1001/archneur.62.5.745 15883261
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-19-8-2 | Journal eISSN: 2166-6482

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Language: English

Page range: 58 - 58

Published on: Aug 1, 2005

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Hepatocerebral Mitochondrial DNA Depletion,

Deoxyguanosine Kinase,

Nystagmus

© 2005 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 19 (2005): Issue 8