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

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

doi:10.1136/jmg.31.5.416

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

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

Hematology

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

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.

Original language	English (US)
Pages (from-to)	416-417
Number of pages	2
Journal	Journal of medical genetics
Volume	31
Issue number	5
DOIs	https://doi.org/10.1136/jmg.31.5.416
State	Published - May 1994

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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.",

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

Abstract

ASJC Scopus subject areas

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