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Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107)
T Uemichi1, M A Gertz, M D Benson
1Department of Medicine, Indiana University School of Medicine, Indianapolis 46202.
Journal of Medical Genetics
|May 1, 1994
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.