Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy
β Scribed by Kanako Goto; Ichizo Nishino; Yukiko K. Hayashi
- Book ID
- 116792418
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 154 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0960-8966
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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
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