TY - JOUR
T1 - Gastrointestinal amyloidosis associated with transthyretin Phe64Ser mutation
AU - Naderi, Amir Said Alizadeh
AU - Farsian, Farnas Nematollah
AU - Igarashi, Peter
PY - 2007/9/1
Y1 - 2007/9/1
N2 - 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.
AB - 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.
KW - Familial amyloidotic polyneuropathy
KW - Gastrointestinal symptoms
KW - Phe64Ser mutation
KW - Transthyretin
UR - http://www.scopus.com/inward/record.url?scp=34548662899&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34548662899&partnerID=8YFLogxK
U2 - 10.1097/MAJ.0b013e318141f8eb
DO - 10.1097/MAJ.0b013e318141f8eb
M3 - Article
C2 - 17873539
AN - SCOPUS:34548662899
VL - 334
SP - 219
EP - 221
JO - American Journal of the Medical Sciences
JF - American Journal of the Medical Sciences
SN - 0002-9629
IS - 3
ER -