Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy.
We report the molecular analysis of the transthyretin gene in a large Italian pedigree with familial amyloidotic polyneuropathy and demonstrate the presence of a Met30 mutation. The usefulness of the genetic analysis in the identification of presymptomatic persons and the diagnosis of individuals with partial symptoms is discussed.
Strocchi
P
P
Department of Pharmacology, University of Bologna, Italy.
Tang
X M
XM
Cambi
F
F
D017772:Amyloid Neuropathies / Q000235:genetics*; D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008715:Methionine / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics*
D017931:DNA Primers; D011228:Prealbumin; D008715:Methionine