A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy

Please use this identifier to cite or link to this item: https://doi.org/10.1002/mus.20331

Title:	A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy
Authors:	Pica, E.C. Pramono, Z.A.D. Verma, K.K. San, L.P. Chee, Y.W.
Keywords:	Amyloid polyneuropathy Late onset Transthyretin V32A mutation
Issue Date:	Aug-2005
Citation:	Pica, E.C., Pramono, Z.A.D., Verma, K.K., San, L.P., Chee, Y.W. (2005-08). A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy. Muscle and Nerve 32 (2) : 223-225. ScholarBank@NUS Repository. https://doi.org/10.1002/mus.20331
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. © 2005 Wiley Periodicals, Inc.
Source Title:	Muscle and Nerve
URI:	http://scholarbank.nus.edu.sg/handle/10635/107492
ISSN:	0148639X
DOI:	10.1002/mus.20331
Appears in Collections:	Staff Publications

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