𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Absence of functional messenger RNA for glycogen phosphorylase in the muscle of two patients with McArdle's disease

✍ Scribed by D. DAEGELEN; A. MUNNICH; M. J. LEVIN; A. GIRAULT; J. GOASGUEN; A. KAHN; J. C. DREYFUS


Book ID
115249073
Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
605 KB
Volume
47
Category
Article
ISSN
0003-4800

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Expression of the muscle glycogen phosph
✍ Gisela Nogales-Gadea; Juan Carlos Rubio; Israel Fernandez-Cadenas; Ines Garcia-C πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 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