Mutations in the gene (MYO7A) encoding myosin-VIIa, a member of the large superfamily of myosin motor proteins that move on cytoplasmic actin filaments, and in the USH2A gene, which encodes a novel protein resembling an extracellular matrix protein or a cell adhesion molecule, both cause Usher syndr
✦ LIBER ✦
Clinical diagnosis of the Usher syndromes
✍ Scribed by Smith, R. J. H. ;Berlin, C. I. ;Hejtmancik, J. F. ;Keats, B. J. B. ;Kimberling, W. J. ;Lewis, R. A. ;Möller, C. G. ;Pelias, M. Z. ;Tranebjærǵ, L.
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 663 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0148-7299
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Usher syndrome is a recessive hereditary disease group with clinical and genetical heterogeneity leading to handicapped hearing and visual loss until middle age. It is the most common cause for deaf-blindness. Three distinct phenotypes and five distinct genotypes are already known. In Finland the di