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Concurrence of facioscapulohumeral muscular dystrophy and myasthenia gravis

✍ Scribed by V. Sansone; D. S. Saperstein; R. J. Barohn; G. Meola


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
99 KB
Volume
30
Category
Article
ISSN
0148-639X

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Facioscapulohumeral muscular dystrophy
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Early onset facioscapulohumeral muscular
✍ 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

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✍ 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

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✍ Dr. G. W. Padberg; Dr. R. R. Frants; O. F. Brouwer; C. Wijmenga; E. Bakker; L. A πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 404 KB

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