Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI

Human Molecular Genetics

Volumn 7, Issue 5, 1998, Pages 865-870

  Chang, Susie ^a   Rosenberg, Marjorie J ^a   Morton, Holmes ^b   Francomano, Clair A ^a,c   Biesecker, Leslie G ^a,d  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b CLINIC FOR SPECIAL CHILDREN   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN PHOSPHORYLASE; MESSENGER RNA;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; DNA SEQUENCE; GENE MUTATION; GENETIC LINKAGE; GLYCOGEN STORAGE DISEASE TYPE 6; HEPATOMEGALY; HUMAN; HUMAN CELL; HYPOGLYCEMIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE VI; HETEROZYGOTE DETECTION; HUMANS; INFANT; LINKAGE (GENETICS); LIVER GLYCOGEN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHOSPHORYLASES;

EID: 0031921140     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.5.865     Document Type: Article

References (26)

1. Chen, Y.-T. and Burchell, A. (1995) Glycogen storage diseases. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, NY, Vol. 1, pp. 935-966.
2. McArdle, B. (1951) Myopathy due to a defect in muscle glycogen breakdown. Clin. Sci., 10, 13-35.
3. Schmid, R. and Mahler, R. (1959) Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J. Clin, Invest., 38, 2044-2058.
4. Lamer, J. and Villar-Palasi, C. (1959) Enzymes in glycogen storage myopathy. Proc. Natl Acad. Sci. USA, 45, 1234-1235.
5. Mommaerts, W., Ilingworth, B., Pearson, C., Guillory, R. and Seraydarian, K. (1959) A functional disorder of muscle associated with the absence of phosphorylase. Proc. Natl Acad. Sci. USA, 45, 791-797.
6. Hers, H. (1959) Etudes enzymatiques sur fragments hépatiques. Revue Int. Hepatol., 9, 35-55.
7. Stellen, D. Jr and Stellen, M. (1960) Glycogen metabolism. Physiol. Rev., 40, 505-537.
8. Willems, P., Hendrickx. J., Van der Auwera, B., Vits, L., Raeymaekers, P., Coucke, P., Ven den Bergh, I., Berger, R., Smit, G., Van Broeckhoven, C., Kilimann, M., Van Elsen, A. and Femandes, J. (1991) Mapping of the gene for X-linked liver glycogenosis due to phophorylase kinase deficiency to human chromosome region Xp22. Genomics, 9, 565-569.
9. Martinuizi, A., Tsujino, S., Vergani, L., Schievano, G., Cadaldini, M., Bartoloni, L., Fanin, M., Siciliano, G., Shanske, S., DiMauro, S. and Angelini, C. (1996) Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy. J. Neurol. Sci., 137, 14-19.
10. Tsujino, S., Shanske, S., Martinuzzi, A., Heiman-Patterson, T. and DiMauro, S. (1995) Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). Hum. Mutat., 6, 276-277.
11. Tsujino, S., Rubin, L.A., Shanske, S. and DiMauro, S. (1994) An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease). Hum. Mutat., 4, 73-75.
12. Tsujino, S., Shanske, S., Nonaka, I., Eto, Y., Mendell, J.R., Fenichel, G.M. and DiMauro, S. (1994) Three new mutations in patients with myophosphorylase deficiency (McArdle disease). Am. J. Hum. Genet., 54, 44-52.
13. Tsujino, S., Shanske, S. and DiMauro, S. (1993) Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). New Engl. J. Med., 329, 241-245.
14. Newgard, C., Fletterick, R., Anderson, L. and Lebo, R. (1987) The polymorphic locus for glycogen storage disease type VI (liver glycogen phosphorylase) maps to chromosome 14. Am. J. Hum. Genet., 40, 351-364.
15. Vogel, F. and Motulsky, A.G. (1997) Human Genetics, 3rd edn. Springer, Berlin, Germany.
16. Collins, A., Frezal, J., Teague, J. and Morton, N.E. (1996) A metric map of humans: 23,500 loci in 850 bands. Proc. Natl Acad. Sci. USA, 93, 14771-14775.
17. Ott, J. (1991) Analysis of Human Genetic Linkage, 2nd edn. Johns Hopkins University Press, Baltimore, MD.
18. Lander, E. and Kruglyak, L. (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genet., 11, 241-247.
19. Newgard, C.B., Nakano, K., Hwang, P.K. and Fletterick, R.J. (1986) Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage. Proc. Natl Acad. Sci. USA, 83, 8132-8136.
20. Cooper, D. and Krawczak, M. (1993) Human Gene Mutation. BIOS Scientific Publishers, Oxford, UK.
21. Maire, I., Baussan, C., Moatti, N., Mathieu, M. and Lemonnier, A. (1991) Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience. Clin. Biochem., 24, 169-178.
22. Cottingham, R.W. Jr, Idury, R.M. and Schäffer, A.A. (1993) Faster sequential genetic linkage computations. Am. J. Hum. Genet., 53, 252-263.
23. Schäffer, A.A., Gupta, S.K., Shriram, K. and Cottingham, R.W. Jr (1994) Avoiding recomputation in linkage analysis. Hum. Hered., 44, 225-237.
24. Gupta, S.K., Schäffer, A.A., Cox, A.L., Dwarkadas, S. and Zwaenepoel, W. (1995) Integrating parallelization strategies for linkage analysis. Comput. Biomed. Res., 28, 116-139.
25. Lathrop, G.M., Lalouel, J.-M., Julier, C. and Ott, J. (1984) Strategies for multilocus analysis in humans. Proc. Natl Acad. Sci. USA, 81, 3443-3446.
26. Dracopoli, N.C., Haines, J.L., Korf, B.R., Moir, D.T., Morton, C.C., Seidman, C.E., Seidman, J.G. and Smith, D.R. (1994) Amplification of sequences from affected individuals. In Dracopoli, N.C. et al. (eds), Current Protocols in Human Genetics. John Wiley & Sons, New York, NY, Vol. 1, pp. 7.1.1-7.1.4.