A Novel Nonsense Mutation (R269X) in the Myophosphorylase Gene in a Patient with McArdle Disease
- 31 December 2001
- journal article
- case report
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 74 (4) , 489-491
Abstract
No abstract availableKeywords
This publication has 16 references indexed in Scilit:
- Acute compartment syndrome after forearm ischemic work test in a patient with McArdle’s diseaseNeurology, 2001
- Resolution of a mispaired secondary structure intermediate could account for a novel micro‐insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's diseaseClinical Genetics, 2001
- A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's diseaseNeuromuscular Disorders, 2000
- A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's diseaseMuscle & Nerve, 1999
- Mutation analysis in myophosphorylase deficiency (McArdle's disease)Annals of Neurology, 1998
- Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutationHuman Mutation, 1998
- Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)New England Journal of Medicine, 1993
- Phosphorylase: a biological transducerTrends in Biochemical Sciences, 1992
- Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylaseProteins: Structure, Function, and Bioinformatics, 1987
- Principles of Enzymatic Analysis1965