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• W2079019780 abstract "Human MutationVolume 4, Issue 1 p. 73-75 Mutation in Brief An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease) Seiichi Tsujino, Seiichi Tsujino The H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York 10032Search for more papers by this authorLaurence A. Rubin, Laurence A. Rubin Division of Rheumatology, Department of Medicine, Women's College Hospital University of Toronto, Toronto, Canada; Fax: 212-305-3986Search for more papers by this authorSara Shanske, Sara Shanske The H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York 10032Search for more papers by this authorSalvatore DiMauro, Corresponding Author Salvatore DiMauro The H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York 10032The H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York 10032Search for more papers by this author Seiichi Tsujino, Seiichi Tsujino The H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York 10032Search for more papers by this authorLaurence A. Rubin, Laurence A. Rubin Division of Rheumatology, Department of Medicine, Women's College Hospital University of Toronto, Toronto, Canada; Fax: 212-305-3986Search for more papers by this authorSara Shanske, Sara Shanske The H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York 10032Search for more papers by this authorSalvatore DiMauro, Corresponding Author Salvatore DiMauro The H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York 10032The H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York 10032Search for more papers by this author First published: 1994 https://doi.org/10.1002/humu.1380040113Citations: 18AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References Barrram C, Edwards RHT, Claque J, Beynon RJ (1993) McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorybse gene explains some but not all cases. Hum Mol Genet 2: 1291– 1293. Burke J, Hwang P, Anderson L, Gorin F, Fletterick R (1987) Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. Proteins 2: 177– 187. Eiken HG, Knappskog PM, Apold J, Skjelkvale L, Bornan H (1992) A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene. Hum Mutat 1: 388– 391. Harmon DL, Gardner-Medwin D, Stirling JL (1993) Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the ß-hcxosaminidase a subunit gene. J Med Genet 30: 123– 128. Hattori Y, Yamashiro Y, Ohba Y, Miyaji T, Morishita M, Yarnamoto K, Yamamoto K, Narai S, Kimura A (1991) A new ß-thalassemia mutation (initiation codon ATG—GTG) found in the Japanese population. Hemoglobin 15: 317– 325. Jankovic L, Efremov GD, Josiifovska O, Juricic D, Stoming TA, Kutlar A, Huisman TH (1990) An initiation codon mutation as a cause of a ß-thalassernia. Hemoglobin 14: 169– 176. Lebo RV, Gorin F, Fletterick RJ, Kao F-T, Cheung M-C, Bruce B-D, Kan YW (1984) High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science 225: 57– 59. McArdle B (1951) Myopathy due to a defect in muscle glycogen breakdown. Clin Sci 10: 13– 33. Mommaerts WFHM, Illingworth B, Pearson CM, Gutllory R, Scraydarian K (1959) A functional disorder of muscle associated with the absence of phosphorylase. Proc Natl Acad Sci USA 45: 791– 797. Mules EH, Hayflick S, Miller CS, Reynolds LW, Thomas GH (1992) Six novel deleterious and three neutral mutations in the gene encoding the α-subunit of hexosaminidase A in non-Jewish individuals. Am J Hum Genet 50: 834– 841. Saba L, Meloni A, Sardu R, Travi M, Primignani P, Rosatelli MC, Cao A (1992) A novel ß-thalassemia mutation (G→A) at the initiation codon of the ß-globin gene. Hum Mutat 1: 420– 422. Schmidt R, Mahler R (1959) Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J Clin Invest 38: 2044– 2058. Shanskc S, Sakoda S, Hermodson MA, DiMauro S, Schon EA (1987) Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. J Biol Chem 262: 14612– 14617. Tsujino S, Shanske S, DiMauro S. (1993) Molecular genetic; heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 329: 241– 245. Tsujino S, Shanske S, Nonaka I, Eto Y, Mendell JR, Fenichel GM, DiMauro S (1994) Three new mutations in patients with myophosphorylase deficiency (McArdle disease). Am J Hum Genet 54: 44– 52. Citing Literature Volume4, Issue11994Pages 73-75 ReferencesRelatedInformation" @default.
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