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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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5846390

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

About this item

Full title

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

Publisher

United States: John Wiley & Sons, Inc

Journal title

Annals of clinical and translational neurology, 2018-03, Vol.5 (3), p.333-345

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

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

Identifiers

Primary Identifiers

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

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