PYGM gene

Known as: McArdle syndrome, glycogen storage disease type V, glycogen phosphorylase, muscle form 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1985-2017
024619852017

Papers overview

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2014
2014
McArdle disease is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from… (More)
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2011
2011
Muscle glycogen Phosphorylase (PYGM) has been shown to catalyze the degradation of glycogen to glucose-1-phosphate. The PYGM gene… (More)
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2010
2010
BACKGROUND Mutations in the PYGM gene encoding skeletal muscle glycogen phosphorylase (GP) cause a metabolic disorder known as… (More)
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2009
2009
Mutations in PYGM, encoding the muscle-specific glycogen phosphorylase (myophosphorylase), are responsible for McArdle disease… (More)
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2006
2006
BACKGROUND McArdle disease is a common metabolic disorder characterized by marked exercise intolerance, premature fatigue during… (More)
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2004
2004
OBJECTIVE To investigate the genetic effect of a new mutation found in exon 17 of the myophosphorylase (PYGM) gene as a cause of… (More)
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2001
2001
We report two siblings with McArdle's disease who are both compound heterozygotes for two non-identical frameshift mutations in… (More)
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2001
2001
Myophosphorylase deficiency, or McArdle disease, is an uncommon entity. The gene for human myophosphorylase has been cloned and… (More)
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1999
1999
The majority of pituitary tumours are monoclonal in origin and arise sporadically or occasionally as part of multiple endocrine… (More)
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1987
1987
The forearm ischemic exercise test (FIET) is a very important clinical tool for evaluation of patients suspected to have a… (More)
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