A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease

Burke, 1987, Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase, Proteins, 2, 177, 10.1002/prot.340020303 DiMauro, 1994, 1554 Tsujino, 1995, The molecular genetic basis of myophosphorylase deficiency (McArdle's disease), Muscle Nerve, S23, 10.1002/mus.880181407 Bruno, 1999, A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease, Neuromusc Disord, 9, 34, 10.1016/S0960-8966(98)00096-0 Vorgerd, 1998, Mutation analysis in myophosphorylase deficiency (McArdle's disease), Ann Neurol, 43, 326, 10.1002/ana.410430310 Andreu, 1999, A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease, Neuromusc Disord, 9, 171, 10.1016/S0960-8966(98)00125-4 Andreu, 1998, Molecular genetic analysis of McArdle's disease in Spanish patients, Neurology, 51, 260, 10.1212/WNL.51.1.260 Tsujino, 1993, Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease), New Engl J Med, 329, 241, 10.1056/NEJM199307223290404 Kubisch, 1998, Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation, Hum Mut, 12, 27, 10.1002/(SICI)1098-1004(1998)12:1<27::AID-HUMU4>3.0.CO;2-# Hudson, 1993, Evolution of allosteric control in glycogen phosphorylase, J Mol Biol, 234, 700, 10.1006/jmbi.1993.1621