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A Novel Nonsense Mutation (R269X) in the Myophosphorylase Gene in a Patient with McArdle Disease

✍ Scribed by Marcus Deschauer; Jens R. Opalka; Alfred Lindner; Stephan Zierz


Book ID
115639924
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
255 KB
Volume
74
Category
Article
ISSN
1096-7192

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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