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Familial amyloidotic polyneuropathy: Report of patients heterozygous for the transthyretin Gly 42 gene
Author(s) -
Murakami Tatsufumi,
Yi Shigehiro,
Yamamoto Kenji,
Maruyama Shoichi,
Araki Shukuro
Publication year - 1992
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410310319
Subject(s) - transthyretin , proband , polyneuropathy , gene , amyloidosis , medicine , compound heterozygosity , endocrinology , microbiology and biotechnology , genetics , mutation , biology
We studied 2 patients from a Japanese family with familial amyloidotic polyneuropathy (FAP). Their clinical features are similar to type 1 FAP, and the proband's rectal tissue contained amyloid that stained with antihuman transthyretin (TTR) antiserum. Direct DNA sequencing of the proband's TTR gene revealed a guanine‐for‐adenine substitution in the second base of codon 42, producing a glycine for glutamate substitution in the plasma protein.