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  • Title: Clinical variant of familial amyloid polyneuropathy.
    Author: Quan D, Cohen JA.
    Journal: Muscle Nerve; 2002 Sep; 26(3):417-20. PubMed ID: 12210373.
    Abstract:
    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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