A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.
Neuromuscul Disord
; 10(6): 447-9, 2000 Aug.
Article
en En
| MEDLINE
| ID: mdl-10899452
ABSTRACT
We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous C-to-A mutation results in the replacement of a highly conserved alanine at amino acid position 659 with an aspartic acid in the C-terminal domain of the myophosphorylase gene protein, near binding sites for pyridoxal phosphate and glucose. Our data further expand the genetic heterogeneity in patients with McArdle's disease.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad del Almacenamiento de Glucógeno Tipo V
/
Mutación Missense
/
Fosforilasas
/
Homocigoto
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2000
Tipo del documento:
Article
País de afiliación:
España