New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy
✍ Scribed by Mamede de Carvalho; Paulo Moreira; Teresinha Evangelista; José Luis Ducla-Soares; Mariana Bento; Rui Fernandes; Maria João Saraiva
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 372 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0148-639X
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📜 SIMILAR VOLUMES
A rare variant transthyretin that has a leucine-for-valine substitution at position 30 was reported in a sporadic case of type 1 familial amyloid polyneuropathy (FAP). We found the same substitution in members of a Japanese family with FAP. Three individuals in this family had a guanine-to-cytosine
Transthyretin amyloid polyneuropathy, caused by mutations in the transthyretin gene, is a progressive condition for which liver transplantation is an established treatment. Favorable outcomes have been described in patients with the most common transthyretin mutation, Val30Met, but outcomes have bee