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Kearns-Sayre syndrome

Known as: CPEO with Myopathies, OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, WITH RAGGED-RED FIBERS, Kearns Syndrome 
A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block… 
National Institutes of Health

Related topics

Related topics

33 relations
Acidosis, LacticAddison DiseaseBasal ganglia calcificationBlepharoptosis

Broader (1)

Mitochondrial Myopathies

Narrower (1)

Mitochondrial cytopathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Mutations in nuclear genes involved in mitochondrial DNA (mtDNA) maintenance cause a wide range of clinical phenotypes associated… 
Review
2006
Review
2006
The adult form of Niemann-Pick disease type C.
Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from… 
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
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… 
Review
2001
Review
2001
Student Ratings: Validity, Utility, and Controversy
This chapter reviews the conclusions on which most experts agree, cites some of the main sources of support for these conclusions… 
Highly Cited
1996
Highly Cited
1996
Spinocerebellar ataxia 3 and machado‐joseph disease: Clinical, molecular, and neuropathological features
Patients with spinocerebellar ataxia 3 (SCA3) and Machado‐Joseph disease (MJD) carry an expanded CAG repeat in the MJDl gene. One… 
Highly Cited
1994
Highly Cited
1994
Relations between performance and subjective ratings of sleepiness during a night awake.
The present study validated the nine-point Karolinska Sleepiness Scale (KSS) and the new Accumulated Time with Sleepiness (ATS… 
Review
1992
Review
1992
MELAS: An original case and clinical criteria for diagnosis
Highly Cited
1989
Highly Cited
1989
Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.
The muscle mitochondria of a patient with Kearns-Sayre/chronic external ophthalmoplegia plus syndrome were found to be completely… 
Highly Cited
1977
Highly Cited
1977
Lumping or splitting? “ophthalmoplegia‐plus” or kearns‐sayre syndrome?
Five new cases and 30 others from the literature were characterized by the clinical triad of progressive external ophthalmoplegia… 
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