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An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)

✍ 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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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

Two homozygous mutations (R193W and 794/
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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