Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis
Author:
Affiliation:
1. IRCCS Istituto delle Scienze Neurologiche, UOC Neurologia, Centro Il Bene, Bellaria Hospital, Bologna, Italy
2. Institute of Cardiology, University of Bologna and S. Orsola-Malpighi Hospital, Bologna, Italy
Publisher
Informa UK Limited
Subject
Internal Medicine
Link
https://www.tandfonline.com/doi/pdf/10.3109/13506129.2012.682187
Reference4 articles.
1. Molecular strategies in genetic diagnosis of transthyretin‐related hereditary amyloidosis
2. Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: Towards tailoring of therapeutic strategies?
3. Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu
4. Transthyretin amyloidosis and superficial siderosis of the CNS
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