Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysis.
We present two cases of autosomal dominant limb girdle muscular dystrophy in a father and son. Both presented in childhood with a classical Becker muscular dystrophy phenotype. The father had initially been informed that he would not have affected children. After the diagnosis of muscular dystrophy in the son, immunoblot analysis was performed on muscle and revealed normal dystrophin. The polymerase chain reaction did not show any deletions in the dystrophin gene, and the father's dystrophin gene was not passed to his son. These cases demonstrate that autosomal dominant muscular dystrophy may present in childhood, and that dystrophin and molecular genetic analyses should be performed when considering the diagnosis of childhood muscular dystrophy, even in the presence of a classical phenotype.
Miller
G
G
Division of Pediatric Neurology, Pennsylvania State University, Milton S. Hershey Medical Center, Hershey 17033.
Beggs
A H
AH
Towfighi
J
J
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000032:analysis*; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D013997:Time Factors
D016189:Dystrophin