Intra-familial variability of oculoleptomeningeal amyloidosis due to the ATTR I107M (c.381T > G) mutation: diagnostic challenges of a rare phenotype.

Autor: Alcantara M; Department of Medicine, Division of Neurology, University of Toronto, Toronto, Canada., Bril V; Department of Medicine, Division of Neurology, University of Toronto, Toronto, Canada.
Jazyk: angličtina
Zdroj: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis [Amyloid] 2024 Mar; Vol. 31 (1), pp. 70-72. Date of Electronic Publication: 2023 Sep 27.
DOI: 10.1080/13506129.2023.2260537
Databáze: MEDLINE