DMD AND BMD IN THE SAME FAMILY DUE TO 2 DISTINCT MUTATIONS

We report on a family with a boy affected by Duchenne muscular dystrop hy (DMD) and an asymptomatic cousin with a Becker-type dystrophin abno rmality, diagnosed by chance, Dystrophin gene analysis showed that the se conditions were caused by two distinct deletions with breakpoints i n different exons. In Xp21 families, DNA analysis and dystrophin testi ng of asymptomatic males with high CK plasma levels might detect diffe rent dystrophin mutations in separate haplotypes as in our family, alt hough we stress there should be clear clinical or familial indications for such testing. (C) 1995 Wiley-Liss, Inc.