Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain-Reference-Cited by-同舟云学术

Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

Published:2022-11-07 Issue: Volume: Page:1-9
ISSN:1350-6129
Container-title:Amyloid
language:en
Short-container-title:Amyloid

Author:

de Frutos Fernando¹²³^ORCID,Ochoa Juan Pablo¹²³⁴,Gómez-González Cristina²⁵⁶⁷,Reyes-Leiva David⁸,Aróstegui Juan I.⁹¹⁰^ORCID,Casasnovas Carlos¹¹^ORCID,Barriales-Villa Roberto²¹²,Sevilla Teresa¹³¹⁴¹⁵¹⁶,Gonzalez-Lopez Esther¹²³,Ramil Elvira¹⁷,Galan Lucia¹⁸,González-Costello Jose¹²¹⁹,García-Álvarez Ana²⁴¹⁰²⁰,Rojas-Garcia Ricard⁸^ORCID,Espinosa Maria Angeles²⁵⁶⁷,Garcia-Pavia Pablo¹²³⁴²¹^ORCID

Affiliation:

1. Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, IDIPHISA, Madrid, Spain

2. CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain

3. European Reference Network for Rare and Low Prevalence, Complex Diseases of the Heart, Amsterdam, The Netherlands

4. Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain

5. Department of Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain

6. Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain

7. Facultad de Medicina, Universidad Complutense, Madrid, Spain

8. Neuromuscular Disease Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Institut de Recerca Hospital de Sant Pau (IIB-Sant Pau), Universitat Autonoma de Barcelona, Barcelona, Spain

9. Department of Immunology, Hospital Clinic, Barcelona, Spain

10. Institut d’Investigacions Biomèdiques August Pi I Sunyer, Barcelona, Spain

11. Neuromuscular Unit, Neurology Department, Hospital Universitario Ballvitge, Bellvitge Biomedical Research Institute, Barcelona, Spain

12. Unidad de Cardiopatías Familiares, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain

13. Department of Neurology, Hospital Universitari i Politècnic La Fe & IIS La Fe, Neuromuscular Diseases Unit, Valencia, Spain

14. Universitat de València, Valencia, Spain

15. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

16. European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD), Paris, France

17. Unidad de Secuenciación de ADN y Biología Molecular, Hospital Universitario Puerta de Hierro Majadahonda, IDIPHISA, Madrid, Spain

18. Neurology Department, Clínico San Carlos Hospital. IdiSSC, Madrid, Spain

19. Department of Cardiology, Hospital Universitari de Bellvitge. BIOHEART-Cardiovascular diseases group; Cardiovascular, Respiratory and Systemic Diseases and cellular aging Program, Institut d’Investigació Biomèdica de Bellvitge - IDIBELL, Universitat de Barcelona, L’Hospitalet de Llobregat, Barcelona, Spain

20. Department of Cardiology, ICCV, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain

21. Universidad Francisco de Vitoria, Pozuelo de Alarcón, Spain

Publisher

Informa UK Limited

Subject

Internal Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/13506129.2022.2142110

Reference27 articles.

1. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases

2. Genotype and Phenotype of Transthyretin Cardiac Amyloidosis

3. Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study

4. The Amyloidogenic V122I Transthyretin Variant in Elderly Black Americans

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