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A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease

✍ Scribed by Georgios M Hadjigeorgiou; Alexandros Papadimitriou; Olimpia Musumeci; Konstantinos Paterakis; Konstantina Flabouriari; Sara Shanske; Salvatore DiMauro


Book ID
119465518
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
154 KB
Volume
194
Category
Article
ISSN
0022-510X

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A missense mutation W797R in the myophos
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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