Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease
✍ Scribed by Josep Gámez; Juan C. Rubio; Miguel A. Martín; Israel Fernández-Cadenas; Elena Garcia-Arumi; Antoni L. Andreu; Joaquín Arenas
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 130 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0148-639X
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Nearly 35% of all mutations identified in the muscle glycogen phosphorylase gene (PYGM) in patients with McArdle disease result in premature termination codons (PTCs), particularly the p.R50X mutation. The latter accounts for more than 50% of the mutated alleles in most Caucasian patient populations
## Abstract Rippling muscle disease (RMD) is a benign myopathy with symptoms and signs of muscular hyperirritability. We report a 17‐year‐old patient who presented with muscular hypertrophy, local mounding on percussion, and a rippling phenomenon. Needle electromyography showed electrical silence d
We report two novel homozygous mutations in the myophosphorylase gene (PYGM) in a patient with McArdle´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