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

Author:

de Frutos Fernando123ORCID,Ochoa Juan Pablo1234,Gómez-González Cristina2567,Reyes-Leiva David8,Aróstegui Juan I.910ORCID,Casasnovas Carlos11ORCID,Barriales-Villa Roberto212,Sevilla Teresa13141516,Gonzalez-Lopez Esther123,Ramil Elvira17,Galan Lucia18,González-Costello Jose1219,García-Álvarez Ana241020,Rojas-Garcia Ricard8ORCID,Espinosa Maria Angeles2567,Garcia-Pavia Pablo123421ORCID

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

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