Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
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Publisher
India: Medknow Publications and Media Pvt. Ltd
Journal title
Language
English
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Publisher
India: Medknow Publications and Media Pvt. Ltd
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Contents
Mitochondrial DNA depletion syndromes (MDSs) are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. We describe the clinical features, biochemical and molecular result...
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Full title
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
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TN_cdi_doaj_primary_oai_doaj_org_article_5d3bd7f0281e44b4aa06d0b7d604e775
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5d3bd7f0281e44b4aa06d0b7d604e775
Other Identifiers
ISSN
1319-3767
E-ISSN
1998-4049
DOI
10.4103/1319-3767.98439
