Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).
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Uemichi T, Gertz MA, Benson MD
Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).
J Med Genet. 1994 May;31(5):416-7.
- PubMed ID
- 7914929 [ View in PubMed]
- 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.