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Familial amyloid polyneuropathy (FAP) is caused by a mutation in the transthyretin (TTR) gene, which produces an amyloidogenic variant form of TTR (ATTR), thus leading to the designation of ATTR type FAP. Until now, more than 100 mutations have been identified as a cause of the gene abnormality in this disease, but the substitution of methionine for valine at position 30 (ATTR Val30Met) is the most common. FAP was once considered to be a disease peculiar to endemic areas, but FAP patients are now known to exist in many nations worldwide.1
The clinical phenotypes of ATTR type FAP have been …
Linked article 301299.
Funding This work received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None.
Provenance and peer review Commissioned; not externally peer reviewed.
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