Myophosphorylase deficiency (glycogenosis type V; McArdle disease)

S. DiMauro, A. L. Andreu, C. Bruno, G. M. Hadjigeorgiou

Research output: Contribution to journalArticle

53 Citations (Scopus)

Abstract

McArdle disease, one of the most common metabolic causes of exercise intolerance and recurrent myoglobinuria, is due to biochemical defects of the muscle isoform of glycogen phosphorylase. The gene for myophosphorylase (PGYM) is on chromosome 11, and 33 distinct mutations have been identified in patients from all over the world. In Caucasians, a nonsense mutation in exon 1 (R49X) is common enough to warrant screening of genomic DNA from blood before considering muscle biopsy. Other mutations are prevalent in different ethnic groups or are "private". Mutations are spread throughout the gene and there is no clear genotype:phenotype correlation. High-protein diet and aerobic exercise are beneficial, and gene therapy appears promising.

Original languageEnglish
Pages (from-to)189-196
Number of pages8
JournalCurrent Molecular Medicine
Volume2
Issue number2
Publication statusPublished - 2002

Fingerprint

Muscle Form Glycogen Phosphorylase
Glycogen Storage Disease Type V
Glycogen Storage Disease
Muscle
Genes
Glycogen Phosphorylase
Gene therapy
Mutation
Biopsy
Chromosomes
Nutrition
Exercise
Exercise Therapy
Exons
Muscles
Screening
Chromosomes, Human, Pair 11
Protein Isoforms
Blood
Nonsense Codon

ASJC Scopus subject areas

  • Biochemistry

Cite this

DiMauro, S., Andreu, A. L., Bruno, C., & Hadjigeorgiou, G. M. (2002). Myophosphorylase deficiency (glycogenosis type V; McArdle disease). Current Molecular Medicine, 2(2), 189-196.

Myophosphorylase deficiency (glycogenosis type V; McArdle disease). / DiMauro, S.; Andreu, A. L.; Bruno, C.; Hadjigeorgiou, G. M.

In: Current Molecular Medicine, Vol. 2, No. 2, 2002, p. 189-196.

Research output: Contribution to journalArticle

DiMauro, S, Andreu, AL, Bruno, C & Hadjigeorgiou, GM 2002, 'Myophosphorylase deficiency (glycogenosis type V; McArdle disease)', Current Molecular Medicine, vol. 2, no. 2, pp. 189-196.
DiMauro, S. ; Andreu, A. L. ; Bruno, C. ; Hadjigeorgiou, G. M. / Myophosphorylase deficiency (glycogenosis type V; McArdle disease). In: Current Molecular Medicine. 2002 ; Vol. 2, No. 2. pp. 189-196.
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