Clinical Characterization of a New TTR Variant in an Italian Family: TTR ALA 49
1991
We describe the peculiar association among eye, heart, peripheral nervous system involvement in an Italian late onset FAP family with 49 substitution (THR → ALA) in TTR molecule. Footplates attached to the posterior surface of the lens are the first clinical signs of the disease appearing many years before the onset of the polyneuropathy.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
4
References
3
Citations
NaN
KQI