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Article

Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2007

Mak Chloe M, Kwong Yok-Lam, Lam Ching-Wan, Chan See-Ching, Lo Chung-Mau, Fan Sheung-Tak, Chang Chee-My, Lau Yuk-Kwong, U Lok-Sun, Tam Sidney

Abstract excerpt

Familial transthyretin amyloidosis (ATTR), caused by mutant transthyretin deposition, is mainly characterized by peripheral neuropathy, autonomic dysfunction, and cardiomyopathy. There are few reports among the Chinese population. We previously described the TTR mutation (Val30Ala) in the first Hong Kong Chinese family with ATTR. In this study, we report the progress of this family and describe another three...

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Source

Identifiers

PMID: 17968690
DOI: 10.1080/13506120701616532

Genes

TTR

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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