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Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore.

Journal of neuromuscular diseases - 1 Jan 2021

Chen Zhiyong, Koh Jasmine S, Saini Monica, Tay Karine S S, Jayne Tan Yi, Chai Josiah Y H, Fam Su Rong, Juraidah A R, Lim Peck Kee, Ng Adeline S L, Prasad Kalpana, Tan Chai Beng, Umapathi T, Verma Kamal K, Yong Ming Hui, Yu Chen, Ng Peng Soon

Abstract excerpt

BACKGROUND AND AIMS: Studies of hereditary transthyretin amyloidosis (ATTRv amyloidosis) in South-East Asia are underrepresented in the literature. We report the unique phenotypic and genetic characteristics of this disorder in a multiracial South-East Asian cohort. METHODS: Patients with genetically proven ATTRv amyloidosis were identified over a 13-year period (2007-2020) at the National Neuroscience Institute,...

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PMID: 34024775
DOI: 10.3233/JND-210656

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