Article
Neuroarthropathy secondary to transthyretin amyloidosis (ATTR V30M).
Acta clinica Belgica - 1 Jan 2000
Wilmes D, Wautier D, Jonckheere S, Cornu O, Yombi J C
Abstract excerpt
In this article we report the case of a 46-years-old Portuguese woman admitted in our orthopaedic ward with right knee pain. Radiological findings were consistent with neuroarthropathy. After exclusion of the most common causes of polyneuropathy, Familial amyloid polyneuropathy (FAP) was diagnosed by the discovery of a mutation V30M on chromosome 18 by polymerase chain reaction on a fibroblast culture of her skin...
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