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Clinical variant of familial amyloid polyneuropathy

โœ Scribed by Dianna Quan; Jeffrey A. Cohen

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
67 KB
Volume
26
Category
Article
ISSN
0148-639X

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โœฆ Synopsis

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 but no other systemic symptoms of amyloidosis. This is one of a few documented cases of the tyr77 mutation in North America. The clinical and electrophysiologic features of this unusual cause of sensorimotor polyneuropathy are discussed.

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