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PYGM gene

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

Papers overview

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2017
2017
This study aimed to identify PYGM mutations in patients with McArdle disease from Turkey by next generation sequencing (NGS… Expand
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2016
2016
Little is known about mutational landscape of rare breast cancer (BC) subtypes. The aim of the study was to apply next generation… Expand
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Review
2015
Review
2015
McArdle disease is an autosomal-recessive disorder caused by inherited deficiency of the muscle isoform of glycogen phosphorylase… Expand
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2014
2014
McArdle disease is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from… Expand
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2013
2013
McArdle disease (MD) is a metabolic myopathy due to myophosphorylase deficiency, which leads to a severe limitation in the rate… Expand
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2009
2009
Mutations in PYGM, encoding the muscle-specific glycogen phosphorylase (myophosphorylase), are responsible for McArdle disease… Expand
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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… Expand
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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… Expand
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2001
2001
Systems and sensor clip assemblies for optically monitoring blood flowing through a blood chamber are provided. A sensor clip… Expand
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2001
2001
Myophosphorylase deficiency, or McArdle disease, is an uncommon entity. The gene for human myophosphorylase has been cloned and… Expand
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