Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.
We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular dystrophy. This combination may be one explanation for the variable expression of X linked muscular dystrophy noted in some pedigrees.
Suthers
G K
GK
Department of Medical Genetics and Epidemiology, Adelaide Children's Hospital, South Australia.
Manson
J I
JI
Stern
L M
LM
Haan
E A
EA
Mulley
J C
JC
D003402:Creatine Kinase / Q000097:blood; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications* / Q000201:enzymology; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D010375:Pedigree
D003402:Creatine Kinase