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  • Title: Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy.
    Author: Vita G, Mazzeo A, Di Leo R, Ferlini A.
    Journal: Neuromuscul Disord; 2005 Mar; 15(3):259-61. PubMed ID: 15725588.
    Abstract:
    In transthyretin familial amyloid polyneuropathy (TTR-FAP), single clinical features rarely remain isolated and are usually accompanied by other symptoms. We describe a patient with TTR-FAP, who had recurrent episodes of syncope for 4 years as an overt and isolated symptom. Later, he experienced paresthesia in the hands, and impotence. Molecular analysis of the TTR gene revealed a Thr49Ala mutation. The unusual clinical presentation presents a diagnostic challenge.
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