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 language | English |
|---|---|
| Pages (from-to) | 189-196 |
| Number of pages | 8 |
| Journal | Current Molecular Medicine |
| Volume | 2 |
| Issue number | 2 |
| Publication status | Published - 2002 |
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ASJC Scopus subject areas
- Biochemistry
Cite this
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 journal › Article
}
TY - JOUR
T1 - Myophosphorylase deficiency (glycogenosis type V; McArdle disease)
AU - DiMauro, S.
AU - Andreu, A. L.
AU - Bruno, C.
AU - Hadjigeorgiou, G. M.
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
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M3 - Article
C2 - 11949935
AN - SCOPUS:0036083005
VL - 2
SP - 189
EP - 196
JO - Current Molecular Medicine
JF - Current Molecular Medicine
SN - 1566-5240
IS - 2
ER -