A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology.
Intern Med
; 52(21): 2461-4, 2013.
Article
em En
| MEDLINE
| ID: mdl-24190153
ABSTRACT
We herein report a novel compound heterozygous mutation of the acid α-glucosidase (GAA) gene in a 23-year-old man with adult-onset Pompe disease. The patient was admitted for respiratory failure and a highly elevated serum level of creatine kinase (CK). His muscle pathology did not show typical vacuolated fibers; however, globular inclusion bodies with acid phosphatase (ACP) activity was observed. A molecular genetic analysis of the GAA gene revealed a novel compound heterozygous mutation, c.1544 T>A (M515K), combined with a previously reported mutation, c.1309 C>T (R437C). The presence of ACP-positive globular inclusion bodies is a useful diagnostic marker for adult-onset Pompe disease, even when typical vacuolated fibers are absent.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio Tipo II
/
Glucana 1,4-alfa-Glucosidase
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article