Two closely spaced nonsense mutations in the DMD gene in a Malaysian family.
Mol Genet Metab
; 103(3): 303-4, 2011 Jul.
Article
em En
| MEDLINE
| ID: mdl-21514860
ABSTRACT
In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient two nonsense mutations (p.234S>X and p.249Q>X, respectively) were identified within exon 8. The proband's mother carried both mutations on one allele. Multiple mutations may explain the occasional discrepancies between genotype and phenotype in dystrophinopathy.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Distrofina
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Códon sem Sentido
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Distrofia Muscular de Duchenne
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Humans
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Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article