𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy

✍ Scribed by R.J.L.F. Lemmers; M.J.R. van der Wielen; E. Bakker; R.R. Frants; S.M. van der Maarel

Book ID
116792732
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
70 KB
Volume
16
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy
✍ Rabi Tawil; SilvΓ¨re M. Van Der Maarel πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 425 KB
Prenatal diagnosis for facioscapulohumer
Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD)
✍ Meena Upadhyaya; Moira MacDonald; David Ravine πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 202 KB

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

Early onset facioscapulohumeral muscular
Early onset facioscapulohumeral muscular dystrophy
✍ Dr. Oebele F. Brouwer; Dr. George W. Padberg; Dr. Egbert Bakker; Dr. Cisca Wijme πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 630 KB

We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with