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Chronic progressive external ophthalmoplegia

Known as: Mitochondrial Ocular Myopathy, Dystrophy, Ocular Muscular, Ocular Myopathy, Mitochondrial 
A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged… Expand
National Institutes of Health

Related topics

Related topics

16 relations
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIAExternal OphthalmoplegiaIn BloodKearns-Sayre syndrome
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Narrower (3)

Gaze Palsy, Familial Horizontal, with Progressive ScoliosisProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4

Broader (2)

Ocular Motility DisordersOphthalmoplegia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
POLG-related disorders and their neurological manifestations
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations… Expand
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Highly Cited
2005
Highly Cited
2005
Are External Shocks Responsible for the Instability of Output in Low-Income Countries?
External shocks, such as commodity price fluctuations, natural disasters, and the role of the international economy, are often… Expand
Highly Cited
2001
Highly Cited
2001
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and organization remain largely unknown. We report… Expand
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Highly Cited
2001
Highly Cited
2001
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are… Expand
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Highly Cited
2001
Highly Cited
2001
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular… Expand
Highly Cited
2000
Highly Cited
2000
Role of adenine nucleotide translocator 1 in mtDNA maintenance.
Autosomal dominant progressive external ophthalmoplegia is a rare human disease that shows a Mendelian inheritance pattern, but… Expand
Highly Cited
1998
Highly Cited
1998
Phylogenetic utility of the external transcribed spacer (ETS) of 18S-26S rDNA: congruence of ETS and ITS trees of Calycadenia (Compositae).
The 3' region of the external transcribed spacer (ETS) of 18S-26S nuclear ribosomal DNA was sequenced in 19 representatives of… Expand
Highly Cited
1990
Highly Cited
1990
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
MITOCHONDRIAL encephalomyopathies are usually divided into three distinct clinical subgroups: (1) mitochondrial myopathy… Expand
Highly Cited
1989
Highly Cited
1989
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.
We investigated the correlations of deletions of mitochondrial DNA in skeletal muscle with clinical manifestations of… Expand
Highly Cited
1989
Highly Cited
1989
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.
Kearns-Sayre syndrome (KSS) and progressive external ophthalmoplegia (PEO) are related neuromuscular disorders characterized by… Expand
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