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Familial Amyloid Polyneuropathy

✍ Scribed by Barreiros, Ana Paula; Galle, Peter R.; Otto, Gerd

Book ID
120994341
Publisher
S. Karger AG
Year
2013
Tongue
English
Weight
494 KB
Volume
31
Category
Article
ISSN
0257-2753

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πŸ“œ SIMILAR VOLUMES

Scalloped pupils in familial amyloid pol
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✍ Alan Rubinow; Alan S. Cohen πŸ“‚ Article πŸ“… 1986 πŸ› John Wiley and Sons 🌐 English βš– 257 KB

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

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✍ Dianna Quan; Jeffrey A. Cohen πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 67 KB

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