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Neurological Sciences
Published in: Neurological Sciences 3/2017

01-03-2017 | Letter to the Editor

Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart

Authors: Claudia Stancanelli, Luca Gentile, Gianluca Di Bella, Fabio Minutoli, Massimo Russo, Giuseppe Vita, Anna Mazzeo

Published in: Neurological Sciences | Issue 3/2017

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Excerpt

Dear Editor, …
Literature
1.
Yamashita T, Hamidi Asl K, Yazaki M, Benson MD (2005) A prospective evaluation of the transthyretin Ile122 allele frequency in an African–American population. Amyloid 12(2):127–130CrossRefPubMed
2.
Jacobson DR, Pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS, Buxbaum JN (1997) Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med 336(7):466–473CrossRefPubMed
3.
Swiecicki PL, Zhen DB, Mauermann ML, Kyle RA, Zeldenrust SR, Grogan M, Dispenzieri A, Gertz MA (2015) Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. Amyloid 22(2):123–131CrossRefPubMed
4.
King JC, Moskowitz IP, Burgon PG, Ahmad F, Stone JR, Seidman JG, Lees JA (2008) E2F3 plays an essential role in cardiac development and function. Cell Cycle 7:3775–3780CrossRefPubMedPubMedCentral
5.
Mazzeo A, Russo M, Di Bella G, Minutoli F, Stancanelli C, Gentile L, Baldari S, Carerj S, Toscano A, Vita G (2015) Transthyretin-related familial amyloid polyneuropathy (TTR-FAP): a single-center experience in Sicily, an Italian endemic area. J Neuromuscul Dis 2:S39–S48CrossRefPubMedPubMedCentral
6.
Santos D, Coelho T, Alves-Ferreira M, Sequeiros J, Mendonça D, Alonso I, Lemos C, Sousa A (2015) Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). Eur J Hum Genet 24(5):756–760CrossRefPubMed
Metadata
Title
Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart
Authors
Claudia Stancanelli
Luca Gentile
Gianluca Di Bella
Fabio Minutoli
Massimo Russo
Giuseppe Vita
Anna Mazzeo
Publication date
01-03-2017
Publisher
Springer Milan
Published in
Neurological Sciences / Issue 3/2017
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-016-2767-7

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