Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

Mariani, Louise‐Laure; Lozeron, Pierre; Théaudin, Marie; Mincheva, Zoïa; Signaté, Aïssatou; Ducot, B.; Algalarrondo, Vincent; Denier, Christian; Adam, Clovis; Nicolas, Guillaume; Samuel, Didier; Slama, Michel; Lacroix, Catherine; Misrahi, Micheline; Adams, David; behalf of the French Familial Amyloid Polyneuropathies Network (CORNAMYL) Study Group, on

doi:10.1002/ana.24519

Public

Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

Published in Annals of Neurology • Sep 15, 2015

Authors:

Louise‐Laure Mariani

Pierre Lozeron

Marie Théaudin

Abstract

OBJECTIVE: To compare the natural history of familial transthyretin amyloid polyneuropathies (FAP) due to the Val30Met, Ser77Tyr, and Ile107Val mutations in France with the classical Portuguese Val30Met FAP. METHODS: We compared 84 French patients with a control group of 110 Portuguese patients carr...

Subject

Transthyretin

Genotype

Phenotype

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