Article
Clinical and biochemical characterization of asymptomatic carriers and symptomatic patients with hereditary transthyretin amyloidosis caused by TTR V30L mutation.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jan 2025
Jiao Hao, Wang Mengdie, Du Kang, Sun Jialu, Chu Xujun, Yang Junsu, Lv He, Zhang Wei, Wang Zhaoxia, Yuan Yun, Liu Yu, Meng Lingchao
Abstract excerpt
BACKGROUND: Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant disease characterized by amyloid fibril deposition. The TTR c.148G > T mutation (V30L) in ATTR is rarely reported, and its biochemical properties are unknown. METHODS: Seven patients and two asymptomatic carriers from two unrelated families diagnosed with V30L variant of ATTR were included. Data on clinical manifestations, laboratory...
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