title: Discordant phenotype in monozygotic female twins with Lys35Thr TTR familial amyloidotic polyneuropathy.
abstract: Familial amyloidotic polyneuropathy is the hereditary form of transthyretin amyloidosis that is rapidly progressive. Discordant expression of Val30Met transthyretin amyloid in monozygotic twins has been reported in the past, in Europe and Asia. We report the first case of discordant expression of Lys35Thr transthyretin amyloid in female monozygotic twins in North America with eye involvement and peripheral neuropathy.
authors.affiliation: *Department of Neurology, Peripheral Neuropathy Center, Neurological Institute, College of Physicians and Surgeons, Columbia University, New York, NY; †Division of Cardiology, College of Physicians and Surgeons, Columbia University, New York, NY; and ‡Amyloidosis Center, Department of Medicine, Boston University Medical Center, Boston, MA.
authors.forename: Katherine
authors.initials: K
authors.lastname: Ruzhansky
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Scoon
authors.forename: Louis H
authors.initials: LH
authors.lastname: Weimer
authors.forename: Mathew S
authors.initials: MS
authors.lastname: Maurer
authors.forename: John L
authors.initials: JL
authors.lastname: Berk
authors.forename: Thomas H
authors.initials: TH
authors.lastname: Brannagan
mesh_terms: D028227:Amyloid Neuropathies, Familial / Q000235:genetics*; D005260:Female; D006801:Humans; D008239:Lysine / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D011228:Prealbumin / Q000235:genetics*; D013912:Threonine / Q000235:genetics*; D014430:Twins, Monozygotic / Q000235:genetics*
chemical_list: D011228:Prealbumin; D013912:Threonine; D008239:Lysine