Article
Late-onset familial amyloid polyneuropathy (FAP) Val30Met without family history.
Clinical medicine & research - 1 Sept 2008
Rudolph Thomas, Kurz Martin Wilhelm, Farbu Elisabeth
Abstract excerpt
Familial amyloid polyneuropathy (FAP) is rare and most commonly caused by the Val30Met mutation of the transthyretin (TTR) gene. Beside polyneuropathy, other complications due to amyloid deposits occur, but may vary in phenotype. The mutation tends to occur in endemic clusters. We describe a 65-year-old man from a non-endemic FAPVal30Met area who developed a progressive generalized painless axonal sensorimotor...
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