The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implications
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-014-9743-2
Reference90 articles.
1. Andersen ST, Vissing J (2008) Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity. J Neurol Neurosurg Psychiatry 79(12):1359–1363
2. Andersen ST, Haller RG, Vissing J (2008) Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. Arch Neurol 65(6):786–789
3. Angelos S, Valberg SJ, Smith BP et al (1995) Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle. Muscle Nerve 18(7):736–740
4. Aquaron R, Berge-Lefranc JL, Pellissier JF et al (2007) Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation. Neuromuscul Disord 17(3):235–241
5. Bartram C, Edwards RH, Clague J, Beynon RJ (1993) McArdle’s disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum Mol Genet 2(8):1291–1293
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