Familial amyloidotic polyneuropathy: Report of patients heterozygous for the transthyretin Gly⁴² gene

• Tatsufumi Murakami

• Shigehiro Yi

• Kenji Yamamoto

• Shoichi Maruyama

• Shukuro Araki

抄録

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.

収録刊行物

• Annals of Neurology

  Annals of Neurology 31 (3), 340-342, 1992-03

  Wiley

キーワード

• Neurology (clinical)
• Neurology

詳細情報

• CRID: 1363670321249447680
• NII論文ID: 30008832590
• DOI: 10.1002/ana.410310319
• ISSN: 15318249
• ISSN: 03645134
• Web Site: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.410310319
• Web Site: https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.410310319
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