Article
[Familial amyloidotic polyneuropathy with a transthyretin variant (Val30-->Leu)].
No to shinkei = Brain and nerve - 1 Feb 1996
Shimizu H, Ishikawa K, Kobayashi H, Murakami T, Nakazato M, Miura K, Atsumi T
Abstract excerpt
We report a Japanese woman with familial amyloidotic polyneuropathy (FAP) with a transthyretin variant that substituted leucine for valine at position 30. Family history was not informative. She had initially suffered from repeated petechiae in the eyelids at the age of 51. Two years later, dyses...
Topics
- Amyloid
- Amyloid Neuropathies
- Autonomic Nervous System Diseases
- Female
- Genetic Variation
- Humans
- Middle Aged
- Myocardium
- Prealbumin
- Sural Nerve