title: Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.
abstract: 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.
authors.affiliation: Department of Medical Genetics and Epidemiology, Adelaide Children's Hospital, South Australia.
authors.forename: G K
authors.initials: GK
authors.lastname: Suthers
authors.forename: J I
authors.initials: JI
authors.lastname: Manson
authors.forename: L M
authors.initials: LM
authors.lastname: Stern
authors.forename: E A
authors.initials: EA
authors.lastname: Haan
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
mesh_terms: 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
chemical_list: D003402:Creatine Kinase