Format

Send to

Choose Destination
Am J Med Sci. 2007 Sep;334(3):219-21.

Gastrointestinal amyloidosis associated with transthyretin Phe64Ser mutation.

Author information

1
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390-8837, USA. ANADER@parknet.pmh.org

Abstract

Familial amyloidotic polyneuropathy (FAP) is a hereditary generalized amyloidosis that results from mutations in the transthyretin (TTR) gene. More then 100 mutations of TTR have been described. Corresponding to the wide variety of TTR mutations, FAP presents with diverse clinical phenotypes. TTR-Phe64Ser is a rare mutation that has previously only been described once in a Canadian family that presented with oculoleptomeningeal symptoms. We report the clinical and molecular characterization of the first described case of a TTR-Phe64Ser mutation in an African-American family with profound gastrointestinal symptoms.

PMID:
17873539
DOI:
10.1097/MAJ.0b013e318141f8eb
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center