Genetic phenotypes and clinical characteristics description of hereditary transthyretin patients in China

Abstract excerpt

<title>Abstract</title> <p>This study described 126 Chinese patients of hereditary transthyretin amyloidosis identified through a review of 29 literatures published between 2007 and 2020. The most common genotype in the Chinese population was Gly83Arg (25, 19.8%), which most likely presented visual and neurological abnormalities without reported death. The second and third common genotype were Val30Met (22,17.4%)...

Topics

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• Aged
• Amyloid Neuropathies, Familial
• Amyloidosis: Diagnosis, Treatment, Outcomes
• Asian People
• Ethnicity
• Mutation
• Phenotype
• Prealbumin

Identifiers and source

Literature Corpus work

e74a8967-6c38-5cad-8952-a44a91633633

DOI

10.21203/rs.3.rs-1494325/v1