ISSN:
1432-1459
Schlagwort(e):
Dystrophin
;
Intragenic duplication
;
Becker muscular dystrophy
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract We describe a family with a large duplication of exons 2–16 of the dystrophin gene. It was characterized by immunocytochemistry, field-inversion gel electrophoresis and quantitative Southern blots. Our observations are of clinical interest in that they demonstrate an intermediate disease course despite a disrupted reading frame of dystrophin as postulated from exon-intron boundaries. We discuss possible mechanisms which may explain the unusual phenotype in our patient.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00868442
Permalink