Phenotypic expression of familial amyloid polyneuropathy in Brazil
✍ Scribed by P. L. Bittencourt; C. A. Couto; C. Clemente; A. Q. Farias; S. A. Palácios; S. Mies; A. C. Goldberg
- Book ID
- 111064206
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 86 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1351-5101
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In 1975, Lessell et a1 ( I ) described "scalloping" of the pupils, a unique pupillary sign in 2 patients with aiutosomal dominant inherited familial amyloid pdyneuropathy (FAP). Although apparently pathognomonic, the sensitivity of this sign in a larger population of FAP patients is unknown. We ther
Hereditary amyloidosis with early and prominent peripheral nerve involvement is often designated familial amyloid polyneuropathy (FAP). The abnormality usually lies in the transthyretin (TTR) gene. We describe a patient with a tyr77 TTR gene mutation who presented with sensorimotor polyneuropathy bu