Condition: Glycogen Storage Disease Type V


rs1057516612 in PYGM gene and Glycogen Storage Disease Type V PMID 7951211 1994 Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.

PMID 25045239 2014 The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report.

PMID 17324573 2007 Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.

PMID 21802952 2011 Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.

PMID 17221871 2007 A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

PMID 17630210 2007 Genotype modulators of clinical severity in McArdle disease.

PMID 22250184 2012 Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

PMID 16786513 2006 McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

PMID 26913921 2016 "Taking advantage of an old concept, ""illegitimate transcription"", for a proposed novel method of genetic diagnosis of McArdle disease."

PMID 25741863 2015 Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.

PMID 19251976 2009 Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.

PMID 9674815 1998 Molecular genetic analysis of McArdle's disease in Spanish patients.

PMID 25914343 2015 McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

PMID 9131647 1997 Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency.

PMID 25740218 2015 Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.

PMID 11706962 2001 Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

PMID 23653251 2013 Clinical and molecular characterization of McArdle's disease in Brazilian patients.

PMID 25873271 2015 Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.

PMID 22730558 2012 Additional characterization confirmed a McArdle disease-like phenotype in p.R50X/p.R50X mice, i.e. they had hyperCKaemia and very poor exercise performance, as assessed in the wire grip and treadmill tests (6% and 5% of the wild-type values, respectively).

PMID 17404776 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.

PMID 17324573 2007 Our results confirm that the p.R50X nonsense mutation is also the most common associated with myophosphorylase deficiency in the Southern French population: 21 of 25 French unrelated patients (15 homozygous and six heterozygous, i.e., 72% of the mutated alleles).

PMID 25240406 2014 PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

PMID 8316268 1993 Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).

PMID 17404776 2007 Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.

PMID 22818872 2013 McArdle disease results from mutations in the gene encoding muscle glycogen phosphorylase (PYGM) protein and the two most common mutations are a premature termination codon (R50X) and a missense mutation (G205S).

PMID 9506549 1998 Mutation analysis in myophosphorylase deficiency (McArdle's disease).

PMID 14638972 2003 Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease.

PMID 12929201 2003 Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.

PMID 10382911 1999 A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.

PMID 10899452 2000 A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.

PMID 12031624 2002 Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.

PMID 8535454 1995 Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).

PMID 7603523 1995 The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).

PMID 10417800 1999 A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.

PMID 10714589 2000 A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease.

PMID 10590419 2000 A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.

PMID 10681080 2000 A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

PMID 10382912 1999 McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.

PMID 10714589 2000 A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease.

PMID 19670320 2009 Permanent muscle weakness in McArdle disease.

PMID 7951262 1994 An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).

PMID 17705025 2007 High frequency of missense mutations in glycogen storage disease type VI.

PMID 14568816 2003 Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.

PMID 12508303 2003 Two novel mutations in the myophosphorylase gene in a patient with McArdle disease.

PMID 17994553 2008 Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.

PMID 14748827 2004 Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

PMID 7664468 1995 Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation.

PMID 8279469 1994 Three new mutations in patients with myophosphorylase deficiency (McArdle disease).

PMID 18067156 2008 Increased PFK activity and GLUT4 protein content in McArdle's disease.

PMID 15979037 2005 A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.

PMID 19472443 2009 High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.

PMID 18641458 2008 Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies.

PMID 11749054 2001 A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease.

PMID 17172620 2006 Novel mutation in the PYGM gene resulting in McArdle disease.

PMID 19232494 2009 Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease?

PMID 18162322 2008 McArdle disease: another systemic low-inflammation disorder?

rs119103258 in PYGM;RASGRP2 gene and Glycogen Storage Disease Type V PMID 29143597 2017 Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

PMID 22250184 2012 Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

PMID 17994553 2008 Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.

PMID 17630210 2007 Genotype modulators of clinical severity in McArdle disease.

PMID 10590419 2000 A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.

PMID 11706962 2001 Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

PMID 10681080 2000 A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

PMID 17221871 2007 A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

PMID 14722619 2004 CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

PMID 16786513 2006 McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

PMID 17324573 2007 Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.

PMID 11168025 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.

PMID 25740218 2015 Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.

PMID 17404776 2007 Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.

PMID 9506549 1998 Mutation analysis in myophosphorylase deficiency (McArdle's disease).

PMID 22832773 2013 Resistance (weight lifting) training in an adolescent with McArdle disease.

PMID 9633816 1998 Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.

PMID 25240406 2014 PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

PMID 28967462 2017 Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

rs1057517001 in RASGRP2;PYGM gene and Glycogen Storage Disease Type V PMID 17221871 2007 A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

PMID 16786513 2006 McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

PMID 22250184 2012 Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.