Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
Hum Genet
; 97(4): 496-9, 1996 Apr.
Article
em En
| MEDLINE
| ID: mdl-8834250
ABSTRACT
We report a missense mutation in an adult Japanese patient with acid alpha-glucosidase (GAA) deficiency. A TC to GT transition at nucleotides 1585-1586, was identified. This transition resulted in an amino acid substitution of Ser-529 to Val (S529V) in exon 11. We also have demonstrated that the S529V mutation abolishes the catalytic activity of the enzyme. Our data suggest that this mutation is the cause of the clinical manifestation known as adult-onset GAA deficiency. The missense mutation described here is a new mutation, and the first identified in Japanese patients with GAA deficiency.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio Tipo II
/
Glucana 1,4-alfa-Glucosidase
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1996
Tipo de documento:
Article