Article
Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64.
Archives of neurology - 1 Sept 1999
Uemichi T, Uitti R J, Koeppen A H, Donat J R, Benson M D
Abstract excerpt
BACKGROUND: A Canadian family with oculoleptomeningeal amyloidosis with both central and peripheral nervous system disorders was described in 1988. Death of affected family members resulted from recurrent cerebral hemorrhage. OBJECTIVE: To determine if oculoleptomeningeal amyloidosis is caused by a mutation in transthyretin (prealbumin). METHODS: DNA isolated from peripheral blood and archival tissues of affected...
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