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Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy
E B Haagsma1, H Scheffer, K Altland
1Department of Gastroenterology and Hepatology, University Hospital, Groningen, The Netherlands. e.b.haagsma@int.azg.nl
Abstract:
A Dutch family with familial amyloidotic polyneuropathy associated with the transthyretin mutation Val71Ala is described. This is the third reported family with this mutation, causing at the protein level an unstable TTR monomer and at the clinical level progressive wasting, polyneuropathy, autonomic dysfunction and vitreous opacities.