DeJager, AEJ

Haagsma, EB

Hamel, BCJ

Hazenberg, BPC

Nikkels, PGJ

Post, JG

A Dutch kindred with transthyretin Cys 114 related familial amyloidotic polyneuropathy is reported. The finding of early involvement of the heart is of great concern and of special relevance to the optimal timing for liver transplantation. To date, the variant had only been reported to be present in Japan. The variant was identified by PCR DNA amplification, single strand conformation polymorphism analysis and DNA sequence analysis. Total transthyretin serum levels in 6 Cys 114 patients (median 115 mg/l, range 70-150) were found to be significantly lower than in 12 Met 30 patients (median 325 mg/l, range 160-590) (p</p

A Dutch kindred with familial amyloidotic polyneuropathy associated with the transthyretin Cys 114 mutant

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