Transthyretin Asp38Tyr: a new mutation associated to a late onset neuropathy
Author:
Affiliation:
1. Division of Neurogenetics, Department of Neurosciences and Behavior Sciences, Medical School of Ribeirão Preto; University of São Paulo; Ribeirão Preto SP Brazil
2. Department of Neurophysiology; Neurocenter; Santa Cruz Bolivia
Publisher
Wiley
Subject
Neurology (clinical),General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns.12112/fullpdf
Reference16 articles.
1. Regional difference and similarity of familial amyloidosis with polyneuropathy in France;Adams;Amyloid,2012
2. Guideline of transthyretin-related hereditary amyloidosis for clinicians;Ando;Orphanet J Rare Dis,2013
3. Phenotypic expression of familial amyloid polyneuropathy in Brazil;Bittencourt;Eur J Neurol,2005
4. Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients;Cappellari;J Peripher Nerv Syst,2011
5. Familial transthyretin amyloidosis with variant Asp38Ala presenting with orthostatic hypotension and chronic diarrhea;Cho;J Cardiovasc Ultrasound,2012
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2. Case Report: A rare transthyretin mutation p.D58Y in a Chinese case of transthyretin amyloid cardiomyopathy;Frontiers in Cardiovascular Medicine;2024-05-22
3. Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis;Neurology and Therapy;2022-08-06
4. The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population;Journal of the Peripheral Nervous System;2018-04-10
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