Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy.
Molecular analysis of the Duchenne muscular dystrophy (DMD) gene was performed on 4 unrelated patients with Becker muscular dystrophy (BMD) presenting with dilated cardiomyopathy. Two patients with a deletion involving exon 1 were quite unique in that they developed fatal myocardial involvement in their teens, despite the absence of significant muscular weakness. The deletion found in these patients comprised the 3'-end of exon 1 and the greater part of intron 1. Two other patients with a deletion of exon 47 showed progressive muscular atrophy and weakness; they were considered to be typical BMD in both clinical features and the type of gene deletion. We speculate that a deletion around exon 1 may severely damage the expression and/or the function of dystrophin selectively in cardiac muscle, but not in skeletal muscle.
Yoshida
K
K
Department of Medicine (Neurology), Shinshu University School of Medicine, Matsumoto, Japan.
Ikeda
S
S
Nakamura
A
A
Kagoshima
M
M
Takeda
S
S
Shoji
S
S
Yanagisawa
N
N
D000293:Adolescent; D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000473:pathology; D002648:Child; D004247:DNA / Q000235:genetics; D016189:Dystrophin / Q000235:genetics; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D015870:Gene Expression; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D010641:Phenotype
D016189:Dystrophin; D004247:DNA