p.Asp58Val Hereditary Transthyretin Amyloidosis: A Case Report and Literature Review
Jaineel Ramnarain, Patrick Hosking, Simon Gibbs · 2025
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Description
Ramnarain, Hosking, and Gibbs report a rare form of inherited transthyretin amyloidosis in a 54-year-old Australian woman. A single change in the gene, written p.Asp58Val, makes a faulty blood protein. That protein builds up and harms organs over time.
Repeated fainting was her main early symptom, well before the cause was found. Care then drew on a team of specialists to keep her function as high as possible. The authors also compare her case with prior reports. They note that nerve damage followed by heart muscle disease may mark this rare variant.
Catalog record
| CREATOR | Jaineel Ramnarain, Patrick Hosking, Simon Gibbs |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 13 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |