title: A new ATTR Phe64Ile mutation with late-onset multiorgan involvement.
abstract: We describe a novel transthyretin mutation in which phenylalanine is replaced with isoleucine in exon 3 at codon 64: Phe64Ile. The mutation was found in an isolated patient and it was not possible to perform a family study. The phenotype included heart and peripheral nerve involvement associated with a possible gastrointestinal and renal involvement.
authors.affiliation: Dipartimento di Medicina Interna, Azienda Universitaria Ospedaliera Careggi, Florence, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Tarquini
authors.forename: Federico
authors.initials: F
authors.lastname: Perfetto
authors.forename: Franco
authors.initials: F
authors.lastname: Bergesio
authors.forename: Anna
authors.initials: A
authors.lastname: Miliani
authors.forename: Stefano
authors.initials: S
authors.lastname: Del Pace
authors.forename: Sabrina
authors.initials: S
authors.lastname: Frusconi
authors.forename: Barbara
authors.initials: B
authors.lastname: Minuti
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Pelo
authors.forename: Francesca
authors.initials: F
authors.lastname: Torricelli
mesh_terms: D000368:Aged; D028226:Amyloidosis, Familial / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics / Q000473:pathology; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D004452:Echocardiography; D005091:Exons / Q000235:genetics; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010649:Phenylalanine / Q000235:genetics; D011228:Prealbumin / Q000235:genetics*
chemical_list: D003062:Codon; D011228:Prealbumin; D007532:Isoleucine; D010649:Phenylalanine