Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy

Authors
Haagsma, EB Scheffer, H Altland, K De Jager, AEJ Hazenberg, BPC
Citation
Eb. Haagsma et al., Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy, AMYLOID, 7(3), 2000, pp. 218-221
Citations number
11
Categorie Soggetti
Medical Research General Topics
Journal title
AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
ISSN journal
13506129 → ACNP
Volume
7
Issue
3
Year of publication
2000
Pages
218 - 221
Database
ISI
SICI code
1350-6129(200009)7:3<218:TVMIAD>2.0.ZU;2-J
Abstract
A Dutch family with familial amyloidotic polyneuropathy associated with the transthyretin mutation Val71Ala is described. This is the third reported f amily with this mutation, causing at the protein level an unstable TTR mono mer and at the clinical level progressive wasting, polyneuropathy, autonomi c dysfunction and vitreous opacities.