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Article

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

Hepatology (Baltimore, Md.) - 1 Oct 2007

Wong Lee-Jun C, Brunetti-Pierri Nicola, Zhang Qing, Yazigi Nada, Bove Kevin E, Dahms Beverly B, Puchowicz Michelle A, Gonzalez-Gomez Ignacio, Schmitt Eric S, Truong Cavatina K, Hoppel Charles L, Chou Ping-Chieh, Wang Jing, Baldwin Erin E, Adams Darius, Leslie Nancy, Boles Richard G, Kerr Douglas S, Craigen William J

Abstract excerpt

UNLABELLED: 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 mitochondri...

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Source

Identifiers

PMID: 17694548
DOI: 10.1002/hep.21799

Genes

MPV17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17694548-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.PMID 17694548Read ↗

MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.Semantic proximity Read ↗

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MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.Semantic proximity Read ↗

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.Semantic proximity Read ↗

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.Semantic proximity Read ↗

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.Semantic proximity Read ↗

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.Semantic proximity Read ↗

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.Semantic proximity Read ↗

Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.Semantic proximity Read ↗

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MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.Semantic proximity Read ↗

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.Semantic proximity Read ↗

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