Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors
About this item
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Author / Creator
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
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Scope and Contents
Contents
Objective
The pathogenic mitochondrial DNA m.3243A>G mutation is associated with a wide range of clinical features, making disease prognosis extremely difficult to predict. We aimed to understand the cause of this heterogeneity.
Methods
We examined the phenotypic profile of 238 adult m.3243A>G carriers (patients and asymptomatic carriers)...
Alternative Titles
Full title
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5846390
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5846390
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.532