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
β¦ LIBER β¦
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)
β Scribed by Seiichi Tsujino; Laurence A. Rubin; Sara Shanske; Salvatore DiMauro
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 233 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1059-7794
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