Mitochondrial Myopathies

Known as: Mitochondrial Myopathies [Disease/Finding], Mitochondrial myopathy, MYOPATHY, MITOCHONDRIAL 
A group of muscle diseases associated with abnormal mitochondria function.
National Institutes of Health

Papers overview

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Highly Cited
2008
Highly Cited
2008
Neuromuscular disorders with defects in the mitochondrial ATP-generating system affect a large number of children and adults… (More)
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Highly Cited
2008
Highly Cited
2008
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have… (More)
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Highly Cited
2003
Highly Cited
2003
Impaired skeletal muscle oxidative phosphorylation in patients with severe mitochondrial respiratory chain defects results in… (More)
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Highly Cited
2002
Highly Cited
2002
We have generated an animal model for mitochondrial myopathy by disrupting the gene for mitochondrial transcription factor A… (More)
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Highly Cited
1990
Highly Cited
1990
MITOCHONDRIAL encephalomyopathies are usually divided into three distinct clinical subgroups: (1) mitochondrial myopathy… (More)
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Highly Cited
1990
Highly Cited
1990
A variable combination of developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle… (More)
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Highly Cited
1989
Highly Cited
1989
We investigated the correlations of deletions of mitochondrial DNA in skeletal muscle with clinical manifestations of… (More)
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Highly Cited
1988
Highly Cited
1988
In vitro studies of muscle mitochondrial metabolism in patients with mitochondrial myopathy have identified a variety of… (More)
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Highly Cited
1988
Highly Cited
1988
We have identified large-scale deletions in muscle mitochondrial DNA (mtDNA) in seven of seven patients with Kearns-Sayre… (More)
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Highly Cited
1984
Highly Cited
1984
We report on two patients who have a mitochondrial myopathy, encephalopathy, lactic acidosis, and recurrent cerebral insults that… (More)
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