Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis

Zampino, S; Sheikh, FH; Vaishnav, J; Judge, D; Pan, BH; Daniel, A; Brown, E; Ebenezer, G; Polydefkis, M

Polydefkis, M (通讯作者),Johns Hopkins Univ, Dept Neurol, Sch Med, Baltimore, MD 21218 USA.

NEUROLOGY, 2023; 100 (19): E2036

Abstract

Background and ObjectivesHereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant systemic disease with variable penetrance and heter......

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