Article
Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).
Muscle & nerve. Supplement - 1 Jan 1995
Upadhyaya M, Maynard J, Osborn M, Jardine P, Harper P S, Lunt P
Abstract excerpt
Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant neuromuscular disorder with a prevalence of 1 in 20,000. The DNA marker p13E-11 (D4F104S1) detects a de novo DNA rearrangement in the majority of sporadic and FSHD cases. These rearrangements consist of deletions of multiple copies of tandem repeat (D4Z4). We have studied 34 new mutation FSHD families of which 26 showed a de novo fragment with p13E-11....
Topics
- Adolescent
- DNA
- Face
- Female
- Gene Rearrangement
- Humans
- Humerus
- Male
- Middle Aged
- Mosaicism
- Muscular Dystrophies
- Mutation