Regional difference and similarity of familial amyloidosis with polyneuropathy in France.

doi:10.3109/13506129.2012.685665

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Article

Regional difference and similarity of familial amyloidosis with polyneuropathy in France.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jun 2012

Adams David, Lozeron Pierre, Theaudin Marie, Mincheva Zoia, Cauquil Cecile, Adam Clovis, Signate Aissatou, Vial Christophe, Maisonobe Thierry, Delmont Emilien, Franques Jerome, Vallat Jean-Michel, Sole Guilhem, Pereon Yann, Lacour Arnaud, Echaniz-Laguna Andoni, Misrahi Micheline, Lacroix Catherine

Abstract excerpt

Familial amyloidosis with polyneuropathy (FAP) in France have a large genetic heterogeneity with 29 transthyretin (TTR) gene mutations; Met30-TTR is the most frequent one (62%); followed by Tyr77-TTR (11.8%) and Phe77-TTR (6.2%). Analysis of 60 FAP patients diagnosed during the period 2008-2010 showed amyloid polyneuropathy was initially suspected in only 38% patients. TTR Met30 of Portuguese ancestry is...

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PMID: 22620968
DOI: 10.3109/13506129.2012.685665

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