Familial amyloidotic polyneuropathy: Report of patients heterozygous for the transthyretin Gly 42  gene | Zendy

Murakami Tatsufumi | Zendy; Yi Shigehiro | Zendy; Yamamoto Kenji | Zendy; Maruyama Shoichi | Zendy; Araki Shukuro | Zendy

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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.

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