Transthyretin ALA 71: A new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy
✍ Scribed by Maria do Rosário Almeida; Francisco Lopez-Andreu; Miguel Munar-Qués; Pedro P. Costa; Maria João Saraiva
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 194 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1059-7794
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Mutations of the transthyretin (TTR) gene are associated with familial amyloïdotic polyneuropathy (FAP). Two new mutations were detected in French patients with TTR amyloïdosis. The first patient was a 72 year old man who presented with severe and rapidly evolving sensory motor polyneuropathy of the
Amyloidosis is characterised by the extracellular deposition of certain different proteins in a distinctively abnormal fibrillar conformation. All types of amyloid fibril share remarkably similar structural and biophysical properties despite substantial chemical heterogeneity among their respective
Familial amyloidotic polyneuropathy is an inherited form of amyloidosis associated with a mutant form of a protein called transthyretin. The Methionine-30 variant is the most frequent mutation observed. This disorder is caused by deposition of this protein as amyloid in several organs, such as the h
In patients with familial amyloidotic polyneuropathy (FAP), heart complications are prognostic factors for mortality and morbidity after liver transplantation (LT). However, only a few studies have analyzed the development of arrhythmia in transplant patients with FAP. We investigated the developmen