Molecular genetics of late onset Glycogen Storage Disease II in Italy

Acta Myologica

Volumn 26, Issue 1, 2007, Pages 67-71

  Pittis, Maria Gabriela ^a   Filocamo, M ^b  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE COURSE; FIBROBLAST; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; IN VITRO STUDY; ITALY; MOLECULAR GENETICS; ONSET AGE; PHYSIOTHERAPIST; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ALPHA-GLUCOSIDASES; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INTRONS; ITALY; MALE; MIDDLE AGED; MUTAGENESIS, SITE-DIRECTED; MUTATION;

EID: 34548601700     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. th edn. New York: McGraw-Hill; 2001. p. 3389-420.
2. Raben N, Plotz P, Byrne BJ. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med 2002;2:145-66.
3. Van den Hout HM, Hop W, van Diggelen OP. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112:332-40.
4. Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004;144:35-43.
5. Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr 2000;137:283-5.
6. Winkel LP, Hagemans ML, van Doorn PA, et al. The natural course of non-classic Pompe's disease; a review of 225 published cases. J Neurol 2005;252:875-84.
7. Hagemans ML, Winkel LP, Hop WC, et al. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 2005a;64:2139-41.
8. Hagemans ML, Winkel LP, Van Doorn PA, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005b;128:671-7.
9. Hagemans ML, Janssens AC, Winkel LP, et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 2004;63:1688-92.
10. Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA. Characterization of the human lysosomal alpha-glucosidase gene. Biochem J 1990a;272:493-7.
11. Hoefsloot LH, Willemsen R, Kroos MA, et al. Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells. Biochem J 1990b;272:485-92.
12. Martiniuk F, Bodkin M, Tzall S, Hirschhorn R. Isolation and partial characterization of the structural gene for human acid alpha glucosidase. DNA Cell Biol 1991;10:283-92.
13. Moreland RJ, Jin X, Zhang XK, et al. Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor. J Biol Chem 2005;280:6780-91.
14. Hermans MM, van Leenen D, Kroos MA, Reuser AJ. Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing. Biochem Bioph Res Commun 1997;241:414-8.
15. Ko TM, Hwu WL, Lin YW, et al. Molecular genetic study of Pompe disease in Chinese patients in Taiwan. Hum Mutat 1999;13:380-4.
16. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12.
17. den Dunnen JT, Paalman MH. Standardizing mutation nomenclature: why bother? Hum Mutat 2003;22:181-2.
18. Montalvo ALE, Bembi B, Donnarumma M, et al. Mutation profile of the GAA gene in 40 Italian patients with late onset Glycogen Storage Disease type II. Hum Mutat 2006;27:999-1006.
19. Laforet P, Nicolino M, Eymard PB, et al. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 2000;55:1122-8.
20. Huie ML, Tsujino S, Sklower Brooks S, et al. Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. Biochem Biophys Res Commun 1998;244:921-7.
21. Montalvo ALE, Cariati R, Deganuto M, et al. Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease. Mol Genet Metab 2004;81:203-8.