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Article

Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients.

Clinical genetics - 1 Feb 2009

Olsson M, Hellman U, Planté-Bordeneuve V, Jonasson J, Lång K, Suhr O B

Abstract excerpt

Familial amyloidotic polyneuropathy (FAP) is a monogenic disease caused by mutations in the transthyretin (TTR) gene. The phenotype of the most common TTR mutation, V30M, varies within and between populations. Oxidative stress and protein misfolding are cellular processes involved in the developm...

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Source

Identifiers

PMID: 19018796
DOI: 10.1111/j.1399-0004.2008.01097.x

Genes

FAP
TTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19018796-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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