1例迟发性淀粉样多发性神经病中国男性患者出现异常甲状腺素运载蛋白突变V32A

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.