Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients.
Neuromuscul Disord
; 20(4): 251-4, 2010 Apr.
Article
en En
| MEDLINE
| ID: mdl-20153965
ABSTRACT
Theoretically, 13% of patients with Duchenne muscular dystrophy may benefit from antisense-mediated skipping of exon 51 to restore the reading frame, which results in the production of a shortened dystrophin protein. We give a detailed description with longitudinal follow up of three patients with Becker muscular dystrophy with in-frame deletions in the DMD gene encompassing exon 51. Their internally deleted, but essentially functional, dystrophins are identical to those that are expected as end products in DMD patients treated with the exon 51 skipping therapy. The mild phenotype encourages further development of exon 51 skipping therapy.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Terapia Genética
/
Exones
/
Distrofina
/
Predisposición Genética a la Enfermedad
/
Distrofia Muscular de Duchenne
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Aged
/
Child
/
Child, preschool
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Países Bajos