Article
DMD and BMD in the same family due to distinct mutations.
American journal of medical genetics - 4 Dec 1995
Morandi L, Mora M, Tedeschi S, Di Blasi C, Curcio C, De Leonardis P, Brugnoni R, Bernasconi P, Mantegazza R, Confalonieri V
Abstract excerpt
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...
Topics
- Adolescent
- Dystrophin
- Haplotypes
- Humans
- Male
- Muscular Dystrophies
- Mutation
- Pedigree