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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… 
National Institutes of Health

Related topics

Related topics

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

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.
Highly Cited
2007
Highly Cited
2007
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Twinkle is a mitochondrial replicative helicase, the mutations of which have been associated with autosomal dominant progressive… 
Highly Cited
2005
Highly Cited
2005
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
Infantile onset spinocerebellar ataxia (IOSCA) (MIM 271245) is a severe autosomal recessively inherited neurodegenerative… 
Highly Cited
2004
Highly Cited
2004
Reconstitution of a minimal mtDNA replisome in vitro
We here reconstitute a minimal mammalian mitochondrial DNA (mtDNA) replisome in vitro. The mtDNA polymerase (POLγ) cannot use… 
Highly Cited
2004
Highly Cited
2004
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.
Mechanisms of mitochondrial DNA (mtDNA) maintenance have recently gained wide interest owing to their role in inherited diseases… 
Highly Cited
2003
Highly Cited
2003
TWINKLE Has 5′ → 3′ DNA Helicase Activity and Is Specifically Stimulated by Mitochondrial Single-stranded DNA-binding Protein*
Mutations in TWINKLE cause autosomal dominant progressive external ophthalmoplegia, a human disorder associated with multiple… 
Highly Cited
2003
Highly Cited
2003
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
Highly Cited
1992
Highly Cited
1992
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.
Multiple deletions of mitochondrial DNA (mtDNA) have recently been reported in familial progressive external ophthalmoplegia (PEO… 
Highly Cited
1983
Highly Cited
1983
Chronic progressive external ophthalmoplegia (CPEO)
we studied skeletal muscles from eight chronic progressive external ophthalmoplegia patients with ragged-red fibers (group A… 
Highly Cited
1980
Highly Cited
1980
Clinical criteria for diagnosis of Machado‐Joseph disease
A Portuguese family of non-Azorean origin is described as affected by an autosomal dominant inherited ataxia resembling Machado… 
Highly Cited
1968
Highly Cited
1968
Ophthalmoplegia Plus: The Neurodegenerative Disorders Associated With Progressive External Ophthalmoplegia
CONSIDERABLE interest has been focused on the entity of progressive external ophthalmoplegia (PEO) since the report of Kiloh and… 
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