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. In Xp21 families, DNA analysis and dystrophin testing of asymptomatic males with high CK plasma levels might detect...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.