A genealogical and clinical study of the phenotypical variation within the Swedish transthyretin His88Arg (p. His108Arg) amyloidosis family.

In conclusion: the Swedish TTRHis88Arg patients all have a common Swedish founder. Cardiomyopathy with heart failure, as well as carpal tunnel syndrome and spinal stenosis were early signs of disease; but peripheral neuropathy was present in one patient before symptoms of cardiomyopathy so the phenotypical presentation of this mutation is variable.
PMID: 25721874 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - February 23, 2015 Category: Genetics & Stem Cells Authors: Hellman U, Lundgren HE, Westermark P, Stafberg C, Nahi H, Tachlinski S, Guggi M, Flogegård M, Hamid M, Escher SA, Suhr OB Tags: Eur J Med Genet Source Type: research