Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease

Gámez, Josep; Rubio, Juan Carlos Colomer; Martín, Miguel A.; Fernández‐Cadenas, Israel; Garcı́a-Arumı́, Elena; Andreu, Antoni L.; Arenas, Joaquı́n

doi:10.1002/mus.10418

Cited by 8 publications

(1 citation statement)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Also, two frequent ethnic mutations have [26] *Recently identified in cDNA, it is likely an inotronic mutation that affects splicing at the cDNA level or it is a genomic deletion. Gamez et al [63] *Recently identified in cDNA, it is likely an inotronic mutation that affects splicing at the cDNA level or it is a genomic deletion. Bruno et al [18••] *Recently identified in cDNA, it is likely an inotronic mutation that affects splicing at the cDNA level or it is a genomic deletion.…”

Section: Pygm Mutationsmentioning

confidence: 98%

Molecular genetics of McArdle’s disease

Nogales‐Gadea¹,

Arenas²,

Andreu

2007

Curr Neurol Neurosci Rep

View full text Add to dashboard Cite

This review highlights recent advances in our understanding of McArdle's disease, including the mechanisms involved in the regulation of the clinical phenotype. The latest molecular genetic studies have demonstrated the genetic heterogeneity of the disorder, with more than 65 mutations identified to date. There is not a specific treatment for McArdle's disease, but some nutritional treatments in combination with aerobic conditioning could improve the quality of life in most patients.

show abstract

Section: Pygm Mutationsmentioning

confidence: 98%

Molecular genetics of McArdle’s disease

Nogales‐Gadea¹,

Arenas²,

Andreu

2007

Curr Neurol Neurosci Rep

View full text Add to dashboard Cite

show abstract

A New Rare Mutation (691delCC/insAAA) in Exon 17 of the PYGM Gene Causing McArdle Disease

Quintáns

Sánchez-Andrade²,

Teijeira³

et al. 2004

Arch Neurol

View full text Add to dashboard Cite

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). Patients: A Spanish patient with McArdle disease was screened for 3 common mutations in the PYGM gene (R49X, W797R, and G204S), as previously described. The patient was heterozygous for R49X. To find other mutations, the coding sequence of the entire PYGM gene was sequenced. The carrier status of his relatives was also studied. Results: A novel rare mutation was found in codon 691 of exon 17. This is an insertion/deletion (indel) and consists simultaneously of a deletion of 2 bases and an insertion of 3 bases (691delCC/insAAA). A restriction analysis was designed to simplify the detection method. Conclusions: The 691delCC/insAAA is the third indel described in the PYGM gene. Indels represent 0.95% of the total reported mutations in the Human Gene Mutation Database. The molecular origin of this mutation is not fully understood. These findings point again to the allelic heterogeneity of McArdle disease.

show abstract

McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene

et al. 2015

Self Cite

View full text Add to dashboard Cite

McArdle disease is an autosomal-recessive disorder caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), which catalyzes the first step of glycogen catabolism, releasing glucose-1-phosphate from glycogen deposits. As a result, muscle metabolism is impaired, leading to different degrees of exercise intolerance. Patients range from asymptomatic to severely affected, including in some cases, limitations in activities of daily living. The PYGM gene codifies myophosphoylase and to date 147 pathogenic mutations and 39 polymorphisms have been reported. Exon 1 and 17 are mutational hot-spots in PYGM and 50% of the described mutations are missense. However, c.148C>T (commonly known as p.R50X) is the most frequent mutation in the majority of the studied populations. No genotype-phenotype correlation has been reported and no mutations have been described in the myophosphorylase domains affecting the phosphorylated Ser-15, the 280's loop, the pyridoxal 5'-phosphate, and the nucleoside inhibitor binding sites. A newly generated knock-in mouse model is now available, which renders the main clinical and molecular features of the disease. Well-established methods for diagnosing patients in laboratories around the world will shorten the frequent ∼20-year period stretching from first symptoms appearance to the genetic diagnosis.

show abstract

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease

Cited by 8 publications

References 18 publications

Molecular genetics of McArdle’s disease

Molecular genetics of McArdle’s disease

A New Rare Mutation (691delCC/insAAA) in Exon 17 of the PYGM Gene Causing McArdle Disease

McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene

Contact Info

Product

Resources

About