A 400-kb tandem duplication within the dystrophin gene leads to severe Becker muscular dystrophy.
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.
Gold
R
R
Department of Neurology, Universität Würzburg, Germany.
Kress
W
W
Bettecken
T
T
Reichmann
H
H
Müller
C R
CR
D000328:Adult; D015139:Blotting, Southern; D004247:DNA / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D004586:Electrophoresis / Q000379:methods; D005091:Exons; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D005810:Multigene Family; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D012091:Repetitive Sequences, Nucleic Acid
D016189:Dystrophin; D004247:DNA