A normal male with an inherited deletion of one exon within the DMD gene.
We describe two brothers with identical inherited deletions of one single exon within the middle of the DMD gene; one brother has Becker muscular dystrophy diagnosed at 11 years of age, whereas the older brother is normal at 18. These results have implications for genetic counselling and prenatal diagnosis in families with Becker muscular dystrophy.
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
M
M
Nordenskjöld
L
L
Nicholson
L
L
Edström
M
M
Anvret
M
M
Eiserman
C
C
Slater
L
L
Stolpe
D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D016189:Dystrophin; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics*
D016189:Dystrophin; D009124:Muscle Proteins; D004247:DNA