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progressive external ophthalmoplegia
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
POLG
SLC25A4
POLG2
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
DNA-directed DNA-polymerase, family A, mitochondria
DNA-directed DNA polymerase, family A, conserved site
DNA-directed DNA polymerase, family A, palm domain
nucleoid
DNA biosynthetic process
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Curated Studies
Most Correlated Studies
Skeletal muscle in mice expressing DN Twinkle, a novel model of progressive external ophthalmoplegia
OMIM - Progressive external ophthalmoplegia
OMIM - Mitochondrial Disorders
OMIM - Ophthalmoplegia
Skeletal muscle expression profiling in mitochondrial disorders
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Literature
Most Relevant Literature
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia.
The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive …
Esophageal contractions in patients with chronic progressive external ophthalmoplegia.
A new mitochondrial point mutation in the transfer RNA(Lys) gene associated with progressive externa…
A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalm…
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Clinical Trials
Most Relevant Clinical Trials
MRI Study - Chronic Progressive External Ophthalmoplegia
Nicotinamide Riboside and Mitochondrial Biogenesis
Clinical Trial Comparing Two Non-Surgical Treatments for Severe Blepharoptosis
Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine
The KHENEREXT Study
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