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Article

Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.

Neurology - 1 Feb 1994

Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M

Abstract excerpt

We studied two patients from a Japanese family with carpal tunnel syndrome (CTS). The biopsy samples obtained during CTS surgical release revealed deposits of amyloid that stained with antihuman transthyretin (TTR) antiserum. Single-strand conformation polymorphism analysis and sequence analysis of polymerase chain reaction (PCR)-amplified exons of the proband's TTR gene revealed a point mutation resulting in a...

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Source

Identifiers

PMID: 8309582
DOI: 10.1212/wnl.44.2.315

Genes

TTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.PMID 8309582Read ↗

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