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Two novel mutations in the myophosphorylase gene in a patient with McArdle disease

✍ Scribed by Marcus Deschauer; Kathrin Hertel; Stephan Zierz

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
129 KB
Volume
27
Category
Article
ISSN
0148-639X

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We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous T-to-C transition results in the replacement of a highly conserved tryptophan at amino acid position (aa) 797 with an arginine in the C-terminal domain of the PYGM

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Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease
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We report two novel homozygous mutations in the myophosphorylase gene (PYGM) in a patient with McArdleΒ΄s disease. A C-to-T transition that changed an arginine to tryptophan at codon 193 (R193W) in exon 5, and a deletion of two adenine base pairs in exon 20 at codon 794/795 (794/795 delAA) were ident

Molecular diagnosis of McArdle disease:
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McArdle disease is a rare autosomal recessive disorder of the muscle glycogen metabolism caused by mutations in the muscle glycogen phosphorylase gene. Until now, a total number of 11 different mutations in the coding region or splice sites of the myophosphorylase gene have been identified. In contr