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Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene

✍ Scribed by C. Paradas; I. Fernandez-Cadenas; E. Gallardo; D. Lligé; J. Arenas; I. Illa; A.L. Andreu

Book ID
116768065
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
101 KB
Volume
391
Category
Article
ISSN
0304-3940

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✍ Gisela Nogales-Gadea; Juan Carlos Rubio; Israel Fernandez-Cadenas; Ines Garcia-C 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB

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