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Research Article
Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).
  1. T Uemichi,
  2. M A Gertz,
  3. M D Benson
  1. Department of Medicine, Indiana University School of Medicine, Indianapolis 46202.

    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.

    https://doi.org/10.1136/jmg.31.5.416

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