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Hepatology. 2007 Oct;46(4):1218-27.

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

Author information

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. ljwong@bcm.edu

Erratum in

  • Hepatology. 2008 Feb;47(2):768.

Abstract

MPV17 is a mitochondrial inner membrane protein of unknown function recently recognized as responsible for a mitochondrial DNA depletion syndrome. The aim of this study is to delineate the specific clinical, pathological, biochemical, and molecular features associated with mitochondrial DNA depletion due to MPV17 gene mutations. We report 4 cases from 3 ethnically diverse families with MPV17 mutations. Importantly, 2 of these cases presented with isolated liver failure during infancy without notable neurologic dysfunction.

CONCLUSION:

We therefore propose that mutations in the MPV17 gene be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure.

PMID:
17694548
DOI:
10.1002/hep.21799
[PubMed - indexed for MEDLINE]
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