DMD and BMD in the same family due to two distinct mutations
- 4 December 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 59 (4) , 501-505
- https://doi.org/10.1002/ajmg.1320590418
Abstract
We report on a family with a boy affected by Duchenne muscular dystrophy (DMD) and an asymptomatic cousin with a Becker-type dystrophin abnormality, diagnosed by chance. Dystrophin gene analysis showed that these conditions were caused by two distinct deletions with breakpoints in different exons. In Xp21 families, DNA analysis and dystrophin testing of asymptomatic males with high CK plasma levels might detect different dystrophin mutations in separate haplotypes as in our family, although we stress there should be clear clinical or familial indications for such testing.Keywords
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