Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy.
Neurol India
;
2003 Sep; 51(3): 367-9
Artigo
em Inglês
| IMSEAR
| ID: sea-120661
ABSTRACT
The reading frame hypothesis has been proposed to explain the molecular basis of two allelic forms of muscular dystrophies, Duchenne/Becker muscular dystrophy (D/BMD). To evaluate the hypothesis in Indian D/BMD patients, we analyzed deletion of dystrophin exons in 147 DMD and 19 BMD patients. Our studies showed deviation of more than 30% from the reading frame hypothesis in DMD patients (47/147). The present results implicate a need to reevaluate the reading frame hypothesis.
Texto completo:
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Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Fenótipo
/
Humanos
/
Masculino
/
Criança
/
Distrofina
/
Mutação da Fase de Leitura
/
Deleção de Genes
/
Distrofia Muscular de Duchenne
/
Genótipo
Idioma:
Inglês
Revista:
Neurol India
Ano de publicação:
2003
Tipo de documento:
Artigo
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