Premium
A novel transthyretin mutation V32A in a Chinese man with late‐onset amyloid polyneuropathy
Author(s) -
Pica Emmanuel C.,
Pramono Zacharias Ad,
Verma Kamal K.,
San Lai Poh,
Chee Yee Woon
Publication year - 2005
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20331
Subject(s) - transthyretin , polyneuropathy , penetrance , amyloidosis , medicine , amyloid polyneuropathy , mutation , cardiomyopathy , phenotype , amyloid (mycology) , pathology , endocrinology , genetics , age of onset , heart failure , biology , gene , disease
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. Muscle Nerve, 2005