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Article

The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene.

Annals of laboratory medicine - 1 May 2016

Park Kyoung Jin, Park Jong Ho, Park June Hee, Cho Eun Bin, Kim Byoung Joon, Kim Jong Won

Abstract excerpt

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. His mother, maternal uncle, two sisters, and son suffered from the same...

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Share to Amyloidosis, Familial
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26915616
DOI: 10.3343/alm.2016.36.3.259
PMCID: PMC4773268

Genes

GSN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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