Article
Anticipation on age at onset in kindreds with hereditary ATTRV30M amyloidosis from the Majorcan cluster.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2020
Cisneros-Barroso Eugenia, González-Moreno Juan, Rodríguez Adrian, Ripoll-Vera Tomas, Álvarez Jorge, Usón Mercedes, Figuerola Antonio, Descals Cristina, Montalá Carles, Ferrer-Nadal Maria Asunción, Losada Ines
Abstract excerpt
BACKGROUND: Hereditary transthyretin amyloidosis (ATTRV30M) is a rare disease caused by amyloid deposition and characterized by a heterogeneous presentation. Anticipation (AC) is described as the decrease in age at onset (AO) within each generation. Our aim was to study AC in a large number of ATTRV30M kindred from Majorca (Spain), and gain further insight into parent-of-origin effects. METHODS: In a cohort of...
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