title: A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy.
abstract: We report a Chinese patient with amyloidotic polyneuropathy associated with a novel transthyretin mutation (V32A). He presented with slowly progressive sensorimotor polyneuropathy accompanied by autonomic dysfunction and cardiomyopathy by echocardiography. This mutation is likely to be associated with late onset and low-penetrance phenotype.
authors.affiliation: Neuromuscular Research Laboratory, National Neuroscience Institute, 11 Jalan Tan Tock Seng, 308433 Singapore. emmanuel_pica@nni.com.sg
authors.forename: Emmanuel C
authors.initials: EC
authors.lastname: Pica
authors.forename: Zacharias A D
authors.initials: ZA
authors.lastname: Pramono
authors.forename: Kamal K
authors.initials: KK
authors.lastname: Verma
authors.forename: Lai Poh
authors.initials: LP
authors.lastname: San
authors.forename: Yee Woon
authors.initials: YW
authors.lastname: Chee
mesh_terms: D017668:Age of Onset; D000368:Aged; D019943:Amino Acid Substitution; D017772:Amyloid Neuropathies / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology*; D044466:Asian People; D001342:Autonomic Nervous System Diseases / Q000235:genetics / Q000503:physiopathology; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics / Q000503:physiopathology; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D011228:Prealbumin / Q000235:genetics*; D012846:Singapore
chemical_list: D011228:Prealbumin