Muscle Form Glycogen Phosphorylase (Myophosphorylase)

An isoenzyme of GLYCOGEN PHOSPHORYLASE that catalyzes the degradation of GLYCOGEN in muscle. Mutation of the gene coding this enzyme is the cause of McArdle disease (GLYCOGEN STORAGE DISEASE TYPE V).

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Networked: 112 relevant articles (1 outcomes, 4 trials/studies)

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Bio-Agent Context: Research Results

Experts

1.	Lucia, Alejandro: 9 articles (01/2018 - 02/2007)
2.	Nogales-Gadea, Gisela: 8 articles (01/2018 - 02/2007)
3.	Arenas, J: 8 articles (09/2007 - 01/2000)
4.	Andreu, Antoni L: 7 articles (01/2018 - 09/2003)
5.	Arenas, Joaquín: 7 articles (01/2018 - 09/2003)
6.	Pinós, Tomàs: 7 articles (01/2018 - 07/2012)
7.	Martín, Miguel A: 6 articles (01/2018 - 09/2003)
8.	Rubio, J C: 6 articles (09/2007 - 01/2000)
9.	Martín, M A: 6 articles (11/2003 - 01/2000)
10.	Vissing, John: 5 articles (01/2018 - 09/2002)

Related Diseases

1.	Glycogen Storage Disease Type V (McArdle's Disease) 06/01/2009 - "These findings identify the first distinct genotype-phenotype relationship in McArdle disease, and indicate that minimal myophosphorylase activity ameliorates the typical McArdle disease phenotype by augmenting muscle oxidative capacity. " 06/01/2009 - "Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease." 11/05/2020 - "This report describes the evolution of an elderly diabetic patient with confirmed diagnosis of McArdle's disease based on the absence of myophosphorylase activity in the analysis of muscle biopsy, and a homozygous mutation in the PYGM gene. " 02/15/2020 - "However, there is enormous mutation heterogeneity in McArdle disease thus sequencing of the myophosphorylase gene is needed in patients highly suspicious of McArdle disease." 01/01/2019 - "McArdle disease is a common metabolic defect caused by an inherited deficit of myophosphorylase. "
2.	Contracture 05/01/1980 - "The diagnosis was indicated by the ischemic forearm test, which produced muscle contracture and no rise in venous lactate levels, and confirmed by histochemical, electrophoretic, and biochemical studies that showed complete absence of myophosphorylase. " 12/01/2014 - "McArdle disease is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from childhood and acute crises of early fatigue and contractures. "
3.	Myositis (Idiopathic Inflammatory Myopathies) 05/01/2012 - "Histological study found small histochemical alterations in muscles fibers (mainly in NADH, SDH, COX, myophosphorylase, adenylate deaminase and PAS stains), and no histological changes were compatible with inflammatory myopathy. "
4.	Muscular Diseases (Myopathy) 11/05/2020 - "McArdle disease is a myopathy caused by mutations in PYGM gene that is characterized by reduced or absent activity of myophosphorylase. " 01/01/2012 - "McArdle disease (glycogen storage disease type V) is a pure myopathy caused by an inherited deficit of myophosphorylase. " 08/01/2011 - "Mutations of PYGM, the gene encoding human myophosphorylase, produce a metabolic myopathy characterised by exercise intolerance and, in some patients, myoglobinuria. " 01/01/2010 - "McArdle disease is a glycogenetic myopathy caused by a deficit of myophosphorylase inherited in an autosomal recessive pattern. " 06/01/2007 - "McArdle disease, a common metabolic myopathy with autosomal recessive inheritance, is caused by a frequent R50X mutation and many rare mutations in the myophosphorylase gene. "
5.	Glycogen Storage Disease (Glycogenosis) 01/01/2018 - "McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. " 07/01/2012 - "McArdle disease (glycogenosis type V), the most common muscle glycogenosis, is a recessive disorder caused by mutations in PYGM, the gene encoding myophosphorylase. " 07/01/2004 - "To investigate the genetic effect of a new mutation found in exon 17 of the myophosphorylase (PYGM) gene as a cause of McArdle disease (also known as type 5 glycogenosis). " 01/01/1981 - "Five patients, two of them siblings, were deficient in myophosphorylase (glycogenosis type V, McArdle's disease). " 10/01/2003 - "Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes."

Related Drugs and Biologics

1.	Lactic Acid (Lactate)
2.	Proteins (Proteins, Gene)
3.	AMP Deaminase (Myoadenylate Deaminase)
4.	NAD (NADH)
5.	Glycogen
6.	Enzymes
7.	Glycogen Phosphorylase (Phosphorylase, Glycogen)
8.	Protein Isoforms (Isoforms)
9.	Creatine Kinase (Creatine Phosphokinase)
10.	DNA (Deoxyribonucleic Acid)

Related Therapies and Procedures

1.	Cesarean Section (Caesarean Section)