Article
Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka.
Journal of the neurological sciences - 1 Oct 1992
Takahashi N, Ueno S, Uemichi T, Fujimura H, Yorifuji S, Tarui S
Abstract excerpt
A Japanese patient with systemic amyloidosis associated with a transthyretin (TTR) variant Arg50 is presented. This 41-year-old man became impotent and developed decreased pain sensation in his hands, and then sensory loss and muscle wasting in his lower legs, and cardiomyopathy appeared. The sym...
Topics
- Adult
- Amyloidosis
- Arginine
- Chromatography, High Pressure Liquid
- Humans
- Immunohistochemistry
- Male
- Mutation
- Pedigree
- Peripheral Nervous System Diseases
- Prealbumin
- Sciatic Nerve
