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Article

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.

Journal of inherited metabolic disease - 1 Dec 2010

Navarro-Sastre Aleix, García-Silva Maria Teresa, Martín-Hernández Elena, Lluch Montserrat, Briones Paz, Ribes Antonia

Abstract excerpt

Mitochondrial DNA depletion syndrome (MDS) is a group of disorders characterized by a quantitative reduction of the mitochondrial DNA copy number and inherited as autosomal recessive traits. Patients affected by this group of diseases present with a wide variety of symptoms depending on the altered gene. MPV17 is one of the genes causing combined encephalopathy and liver failure and at present there is no...

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Source

Identifiers

PMID: 20614188
DOI: 10.1007/s10545-010-9155-x

Genes

MPV17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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