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

Clare Bartram1, Richard H.T. Edwards2, John Clague2, Robert J. Beynon1
1Department of Biochemistry and Molecular Biology, UMIST, PO Box 88, Manchester 1QD, UK
2Muscle Research Center, Department of Medicine, University of Liverpool, PO Box 147, Liverpool L69 3BX, UK

Tài liệu tham khảo

McArdle, 1951, Clin. Sci., 10, 13 Mommaerts, 1959, 45, 791 Schmid, 1959, J. Clin. Invest., 38, 2044, 10.1172/JCI103983 DiMauro, 1987, Vol. 2, 1585 McConchie, 1991, Biochim. Biophys. Acta, 1096, 26, 10.1016/0925-4439(90)90008-D Lebo, 1984, Science, 225, 57, 10.1126/science.6587566 Bartram, 1993, Hum. Mol. Genet., 2, 1291, 10.1093/hmg/2.8.1291 Beaudet, 1993, Human Mutation, 2, 245, 10.1002/humu.1380020402 Tsujino, 1993, N. Engl. J. Med., 329, 241, 10.1056/NEJM199307223290404 McIntosh, 1993, Nature genetics, 4, 204, 10.1038/ng0793-219