1.
Muscle Nerve
; 32(2): 223-5, 2005 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15793844
RESUMO
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.