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Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset

✍ Scribed by Russo, Massimo; Mazzeo, Anna; Stancanelli, Claudia; Di Leo, Rita; Gentile, Luca; Di Bella, Gianluca; Minutoli, Fabio; Baldari, Sergio; Vita, Giuseppe


Book ID
119855270
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
449 KB
Volume
17
Category
Article
ISSN
1085-9489

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Familial amyloidotic polyneuropathy is an inherited form of amyloidosis associated with a mutant form of a protein called transthyretin. The Methionine-30 variant is the most frequent mutation observed. This disorder is caused by deposition of this protein as amyloid in several organs, such as the h