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Letters

A late-onset case of hereditary transthyretin amyloidosis with a novel compound heterozygous mutation

, , , , , , , , & show all
Pages 97-98 | Received 14 Nov 2016, Accepted 22 Jan 2017, Published online: 22 Apr 2017

References

  • Ando Y, Nakamura M, Araki S. Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 2005;62:1057–62.
  • Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007;36:411–23.
  • Terazaki H, Ando Y, Misumi S, Nakamura M, Ando E, Matsunaga N, Shoji S, et al. A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels. Biochem Biophys Res Commun 1999;264:365–70.
  • Lim A, Prokaeva T, Connor LH, Falk RH, Skinner M, Costello CE. Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis. Amyloid 2002;9:134–40.
  • Sekijima Y, Dendle MA, Kelly JW. Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis. Amyloid 2006;13:236–49.

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