Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China

• Published in: Orphanet journal of rare diseases Vol. 17; no. 1; pp. 1 - 16
• Main Authors: He, Xinyue, Tian, Zhuang, Guan, Hongzhi, Zhang, Shuyang
• Format: Journal Article
• Language: English
• Published: London BioMed Central Ltd 02.09.2022; BioMed Central; BMC
• Subjects: Age; Amyloidosis; Autonomic nervous system; Cardiomyopathy; Chinese; Death; Family medical history; Genotype & phenotype; Genotypes; Heart; Hereditary; Identification and classification; Literature reviews; Medical prognosis; Medical research; Mutation; Patients; Peripheral neuropathy; Phenotype; Phenotypes; Rare disease; Rare diseases; Survival analysis; Systematic review; Transthyretin; Transthyretin amyloidosis; Vision; China

Hereditary transthyretin amyloidosis (hATTR) is a progressive and fatal disease with heterogenous clinical presentations, limited diagnosis and poor prognosis. This retrospective analysis study aimed to report the genotypes and phenotypes of herediary transthyretin amyloidosis (hATTR) in Chinese thr...