A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
Neuromuscul Disord
; 14(6): 371-4, 2004 Jun.
Article
em En
| MEDLINE
| ID: mdl-15145338
ABSTRACT
A six-year-old child presented at 8 months of age with proximal muscle weakness and mild cardiac hypertrophy. Some alpha-glucosidase activity was detected in muscle but not in fibroblasts. As none of the two pathogenic mutations, [c.1933G>A]+[c.2702T>A] (Asp645Asn/Leu901Gln), led to detectable alpha-glucosidase activity upon expression in COS cells, the phenotype of the patient remained unexplained. A functionally comparable set of mutations, Asp645Asn/insGnt2243, was reported previously to cause classic infantile Pompe disease [Biochem Biophys Res Commun 244 (1998) 921]. We conclude that secondary genetic or environmental factors can be decisive for the phenotypic outcome of classic infantile versus childhood Pompe disease, when the acid alpha-glucosidase activity is extremely low.
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Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Doença de Depósito de Glicogênio Tipo II
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Alfa-Glucosidases
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Mutação
Limite:
Animals
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article