✦ LIBER ✦

McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene

✍ Scribed by Bartram, Clare; Edwards, Richard H.T.; Clague, John; Beynon, Robert J.

Book ID: 125473874
Publisher: Elsevier Science
Year: 1994
Tongue: English
Weight: 230 KB
Volume: 1226
Category: Article
ISSN: 0925-4439
DOI: 10.1016/0925-4439(94)90047-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two novel mutations in the muscle glycog

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease

✍ Josep Gámez; Juan C. Rubio; Miguel A. Martín; Israel Fernández-Cadenas; Elena Ga 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 130 KB

Expression of the muscle glycogen phosph

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay

✍ 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

Variable presentation of the clinical ph

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

✍ C. Paradas; I. Fernandez-Cadenas; E. Gallardo; D. Lligé; J. Arenas; I. Illa; A.L 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 101 KB

Absence of functional messenger RNA for

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

✍ D. DAEGELEN; A. MUNNICH; M. J. LEVIN; A. GIRAULT; J. GOASGUEN; A. KAHN; J. C. DR 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 605 KB

Cloning of bovine muscle glycogen phosph

Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease

✍ Seiichi Tsujino; Sara Shanske; Stephanie J. Valberg; George H. Cardinet III; Bra 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 607 KB

A frameshift mutation in exon 2 of the p

A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1

✍ A. Eigel; B. Dworniczak; L. Kalaydjieva; J. Horst 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 291 KB

A deletion of a single base in codon 55 (exon 2) of the phenylalanine hydroxylase (PAH) gene has been identified by direct DNA sequencing of 94 phenylketonuria (PKU) chromosomes. This mutation alters the reading frame so that a stop signal (TAA) is generated in codon 60 of the PAH gene. Haplotype an