RESUMEN

Heteroduplex analysis was used to search for small mutations in a sample of 40 Italian DMD/BMB patients in whom large rearrangements were not found. A novel nonsense mutation in exon 17 of the dystrophin gene, consisting of a C to T transition, is described.

Asunto(s)

Distrofina/genética , Distrofias Musculares/genética , Ácidos Nucleicos Heterodúplex/análisis , Mutación Puntual , Codón sin Sentido/genética , Exones/genética , Humanos , Italia , Ácidos Nucleicos Heterodúplex/genética , Fenotipo , Reacción en Cadena de la Polimerasa , Polimorfismo Genético