Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Arch Neurol. 2005 May;62(5):745-7.

New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.

Author information

  • 1Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

Abstract

OBJECTIVE:

To document novel homozygous mutations in the gene for deoxyguanosine kinase (DGK) in 3 children with mitochondrial DNA depletion.

DESIGN:

Clinical features included liver failure, hypotonia, and nystagmus in 2 siblings, and liver cirrhosis, optic dysplasia, nystagmus, and microcephaly in the third patient. We sequenced the whole coding region of the DGK gene.

RESULTS:

We identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins.

CONCLUSION:

These data confirm that DGK mutations typically affect the liver and brain.

PMID:
15883261
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Silverchair Information Systems
    Loading ...
    Write to the Help Desk