Congenital muscular dystrophy: An expanding clinical syndrome
โ Scribed by Victor Dubowitz
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 95 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0364-5134
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๐ SIMILAR VOLUMES
The association of congenital muscular dystrophy (CMD) with type I1 lissencephaly and ocular anomalies is found in Fukuyama CMD (FCMD), the Walker-Warburg syndrome (WWS), and muscle-eye-brain disease (MEBD). The classification of these disorders remains controversial. Between 1972 and 1992, we perfo
The importance of O-glycosylation of alpha-dystroglycan (alpha-DG) is evident from the identification of POMT1 mutations in Walker-Warburg syndrome (WWS). Approximately one-fifth of the WWS patients show mutations in POMT1, which result in complete loss of protein mannosyltransferase activity. WWS p
Four children with congenital muscular dystrophy (CMD), eye and brain abnormalities are described. Their clinical and neuroradiological features are compatible with a diagnosis of Walker-Warburg syndrome (WWS), according to the criteria proposed by Dobyns et al. (i.e., presence of type II lissenceph