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PYGM gene

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

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Glycogen Phosphorylase, Muscle FormGlycogen Storage Disease Type V

Papers overview

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2017
2017
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease
2014
2014
Abstract 435: Is PYGM dysregulation involved in breast cancer cell metabolism
Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA Many anticancer targets with role in drug resistance are… 
2013
2013
Oxidative stress and Nrf2 signaling in McArdle disease.
2009
2009
High‐resolution Melting Facilitates Mutation Screening of PYGM in Patients with McArdle Disease
Mutations in PYGM, encoding the muscle‐specific glycogen phosphorylase (myophosphorylase), are responsible for McArdle disease… 
2006
2006
Novel mutation in the PYGM gene resulting in McArdle disease.
BACKGROUND McArdle disease is a common metabolic disorder characterized by marked exercise intolerance, premature fatigue during… 
2004
2004
A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease.
OBJECTIVE To investigate the genetic effect of a new mutation found in exon 17 of the myophosphorylase (PYGM) gene as a cause of… 
Highly Cited
2004
Highly Cited
2004
Study of candidate genes for glycolytic potential of porcine skeletal muscle: identification and analysis of mutations, linkage and physical mapping and association with meat quality traits in pigs
Several genes (PRKAA2, PRKAB1, PRKAB2, PRKAG3, GAA, GYS1, PYGM, ALDOA, GPI, LDHA, PGAM2 and PKM2), chosen according to their role… 
2001
2001
Resolution of a mispaired secondary structure intermediate could account for a novel micro‐insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease
We report two siblings with McArdle's disease who are both compound heterozygotes for two non‐identical frameshift mutations in… 
2001
2001
[McArdle disease: report of four brothers with myophosphorylase deficiency].
Myophosphorylase deficiency, or McArdle disease, is an uncommon entity. The gene for human myophosphorylase has been cloned and… 
1994
1994
Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity.
Vitelliform macular dystrophy, also known as Best's disease (BD), is an autosomal dominant disorder typically characterized by an… 
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