2000•AmyloidRequires access
Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy
Elizabeth B. Haagsma, Hans Scheffer, Klaus Altland, A.E.J. de Jager, Bouke P. C. Hazenberg
Open publisher page 9 citations
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.