Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germ
β¦ LIBER β¦
Facioscapulohumeral muscular dystrophy: The choice of a biopsy site
β Scribed by Dr. John B. Bodensteiner; Dr. Sydney S. Schochet
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 637 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0148-639X
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Facioscapulohumeral dystrophy (FSHD) is an autosomaldominant muscular disorder associated with a short (<35 kb) EcoRI/BlnI fragment resulting from deletion of an integral number of units of a 3.3-kb repeat located at 4q35. In this study, we determined fragment sizes separated by pulsed-field gel ele