A novel acid α-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II

Journal of Inherited Metabolic Disease

Volumn 20, Issue 4, 1997, Pages 556-558

  Kroos, M A ^a   Waitfield, A E ^b   Joosse, M ^a   Winchester, B ^b   Reuser, A J J ^a   MacDermot, K D ^c  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE; PROTEIN;

ARTICLE; CASE REPORT; ETHNIC GROUP; EXON; FACIAL EXPRESSION; FAMILY; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; MOSLEM; MOTOR DEVELOPMENT; PAKISTAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PREGNANCY TERMINATION; VOCALIZATION;

ALPHA-GLUCOSIDASES; BRONCHOPNEUMONIA; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ECHOCARDIOGRAPHY; FATAL OUTCOME; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HETEROZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; PREGNANCY;

EID: 0030841171     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005394706622     Document Type: Article

References (3)

1. Hirschhorn R (1995) Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2443-2464.
2. Huie ML, Chen AS, Sklower Brooks S, Grix A, Hirschhorn R (1994) A de novo 13nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). Hum Mol Genet 3: 1081-1087.
3. Reuser AJJ, Kroos MA, Oude Elferink RP, Tager JM (1985) Defects in synthesis, phosphorylation, and maturation of acid α-glucosidase in glycogenosis type II. J Biol Chem 260: 8336-8341.