Article
[Familial transthyretin amyloidosis].
Klinicheskaia meditsina - 1 Jan 2009
Pogromov A P, Diukova G M, Kovalchuk M O, Strokov I A, Akhmedzhanova L T, Generozov E V, Markin S S
Abstract excerpt
A case of familial transthyretin amyloidosis with TTR Cys 114 gene polymorphism is described (first in Russia and third in the world). The clinical picture of the proband was dominated by symptoms of autonomous polyneuropathy (orthostatic hypotension, erectile dysfunction, diarrhea, tachycardia, foot dyshydrosis) and of somatic nerve lesions (dumbness, impaired surface and deep sensitivity in the limbs). The...
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