Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).
case_report · Level V
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- Record sourced from PubMed, PMID 7914929.
- Also identified by PMC identifier 1049878.
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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.
Medical subject headings
- Amyloid Neuropathies
- Carpal Tunnel Syndrome
- Point Mutation
- Prealbumin