ISSN:
1432-1459
Keywords:
Dystrophin
;
Intragenic duplication
;
Becker muscular dystrophy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00868442
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