P. Strocchi et al., MOLECULAR DIAGNOSIS OF TRANSTHYRETIN MET(30) MUTATION IN AN ITALIAN FAMILY WITH FAMILIAL AMYLOIDOTIC POLYNEUROPATHY, FEBS letters, 359(2-3), 1995, pp. 203-205
We report the molecular analysis of the transthyretin gene in a large
Italian pedigree with familial amyloidotic polyneuropathy and demonstr
ate the presence of a Met(30) mutation, The usefulness of the genetic
analysis in the identification of presymptomatic persons and the diagn
osis of individuals with partial symptoms is discussed.