Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD)
โ Scribed by Dr. Meena Upadhyaya; Dr. Julie Maynard; Dr. Mike Osborn; Dr. Phil Jardine; Dr. P. S. Harper; Dr. P. Lunt
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 501 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0148-639X
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
This study outlines the molecular DNA findings derived from 12 separate prenatal diagnoses offered to families with a history of facioscapulohumeral muscular dystrophy. A high risk of the fetus being affected was identified in five pregnancies. Several practical problems are discussed, particularly
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