Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy.
Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in DMD/BMD carriers were found. Because 26% of nonmanifesting carriers have dystrophin-negative fibers, this might be used in suspected DMD/BMD carriers in whom DNA analysis fails to give an answer about their carrier risk.
Hoogerwaard
Edo M
EM
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands. ehoogerwaard@hccnet.nl
Ginjaar
Ieke B
IB
Bakker
Egbert
E
de Visser
Marianne
M
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D003430:Cross-Sectional Studies; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D011446:Prospective Studies
D016189:Dystrophin