Amyloid polyneuropathy in two German-American families: A new transthyretin variant (Val 107)

T. Uemichi, M. A. Gertz, M. D. Benson

Research output: Contribution to journalArticle

15 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)416-417
Number of pages2
JournalJournal of Medical Genetics
Issue number5
StatePublished - May 1994


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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