A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy.
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.
Pica
Emmanuel C
EC
Neuromuscular Research Laboratory, National Neuroscience Institute, 11 Jalan Tan Tock Seng, 308433 Singapore. emmanuel_pica@nni.com.sg
Pramono
Zacharias A D
ZA
Verma
Kamal K
KK
San
Lai Poh
LP
Chee
Yee Woon
YW
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
D011228:Prealbumin