Article
Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2012
González-Duarte Alejandra, Soto Karla Cárdenas, Martínez-Baños Deborah, Arteaga-Vazquez Jazmin, Barrera Fausto, Berenguer-Sanchez Mauricio, Cantu-Brito Carlos, García-Ramos Guillermo, Estañol Vidal Bruno
Abstract excerpt
BACKGROUND: The phenotypic heterogeneity of transthyretin amyloidosis (ATTR) familial polyneuropathy may be linked to the type of mutation and to the environmental factors. A gender difference in relation to the severity of the disease has been suspected. More than 100 different pathogenic variants of hereditary transthyretin (TTR) mutations have been reported. OBJECTIVE: To describe 32 patients with confirmed...
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