title: Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).
abstract: We report studies on two German-American persons with systemic amyloidosis. Affected subjects presented with carpal tunnel syndrome in the sixth decade of life followed by peripheral neuropathy. DNA analysis of the transthyretin gene showed a new point mutation which is responsible for substitution of valine for isoleucine at position 107 of the transthyretin molecule.
authors.affiliation: Department of Medicine, Indiana University School of Medicine, Indianapolis 46202.
authors.forename: T
authors.initials: T
authors.lastname: Uemichi
authors.forename: M A
authors.initials: MA
authors.lastname: Gertz
authors.forename: M D
authors.initials: MD
authors.lastname: Benson
mesh_terms: D000368:Aged; D017772:Amyloid Neuropathies / Q000208:ethnology / Q000235:genetics*; D001483:Base Sequence; D002349:Carpal Tunnel Syndrome / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D015252:Deoxyribonucleases, Type II Site-Specific; D005858:Germany / Q000208:ethnology; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011228:Prealbumin / Q000235:genetics*; D014481:United States; D014633:Valine / Q000235:genetics
chemical_list: D017931:DNA Primers; D011228:Prealbumin; D007532:Isoleucine; C040838:endodeoxyribonuclease MaeIII; D015252:Deoxyribonucleases, Type II Site-Specific; D014633:Valine