metabolic myopathy

Known as: metabolic myopathies 
A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The… (More)
National Institutes of Health

Papers overview

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2014
2014
Myostatin regulates skeletal muscle size via the activin receptor IIB (ActRIIB). However, its effect on muscle energy metabolism… (More)
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Highly Cited
2013
Highly Cited
2013
A recently proposed therapeutic approach for lysosomal storage disorders (LSDs) relies upon the ability of transcription factor… (More)
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2007
2007
Patients with mitochondrial myopathies (MM) or myophosphorylase deficiency (McArdle's disease, McA) show impaired capacity for O… (More)
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Highly Cited
2006
Highly Cited
2006
Lipid-lowering drugs produce myopathic side effects in up to 7% of treated patients, with severe rhabdomyolysis occurring in as… (More)
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Review
2004
Review
2004
Pompe disease, also referred to as glycogen storage disease type II and acid maltase deficiency, is a genetic muscle disorder… (More)
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2003
2003
OBJECTIVE To detect and characterise enterovirus RNA in skeletal muscle from patients with chronic fatigue syndrome (CFS) and to… (More)
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Highly Cited
2001
Highly Cited
2001
A severe muscle enolase deficiency, with 5% of residual activity, was detected in a 47-year-old man affected with exercise… (More)
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Review
2000
Review
2000
Peripheral arterial disease (PAD) is associated with an increased risk of overall cardiovascular mortality, and substantial… (More)
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Highly Cited
1999
Highly Cited
1999
Mutations in mitochondrial DNA (mtDNA) are the most frequent causes of mitochondrial myopathy in adults. In the majority of cases… (More)
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1981
1981
Muscle phosphoglycerate mutase activity was decreased (5.7 percent of the lowest control value) in a 52-year-old man with… (More)
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