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Familial amyloidosis Article Summary

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Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene
European Journal of Clinical Investigation, 09/17/07
Print     Email This Article     Save in My Library   Free Abstract
Augustin, S., et al. - Conclusions: Here we report a large pedigree from Spain with three members affected by a severe late-onset form of amyloidosis due to a rare D38V TTR mutation. The variations on the natural history of this form of amyloidosis may have important consequences on genetic counselling, follow-up, and therapeutic approaches for these patients
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