Dystrophinopathy Phenotypes and Modifying Factors in <scp> <i>DMD</i> </scp> Exon 45

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

Published:2022-09-07 Issue:5 Volume:92 Page:793-806
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Annals of Neurology

Author:

Poyatos‐García Javier¹²^ORCID,Martí Pilar¹²^ORCID,Liquori Alessandro³⁴^ORCID,Muelas Nuria¹²⁵^ORCID,Pitarch Inmaculada⁵⁶^ORCID,Martinez‐Dolz Luis⁷⁸^ORCID,Rodríguez Benjamin⁹¹⁰,Gonzalez‐Quereda Lidia⁹¹⁰^ORCID,Damiá Maria⁵⁶^ORCID,Aller Elena¹¹^ORCID,Selva‐Gimenez Marta¹²^ORCID,Vilchez Roger¹²,Diaz‐Manera Jordi¹²¹³¹⁴^ORCID,Alonso‐Pérez Jorge¹²¹³¹⁴,Barcena José Eulalio¹⁵^ORCID,Jauregui Amaia¹⁵,Gámez Josep¹³¹⁶^ORCID,Aladrén Jesus Angel¹⁷,Fernández Ariadna¹⁷,Montolio Marisol¹⁸¹⁹^ORCID,Azorin Inmaculada¹²,Hervas David²⁰^ORCID,Casasús Ana¹²,Nieto Marisa¹²,Gallano Pia⁹¹⁰^ORCID,Sevilla Teresa¹²⁵²¹^ORCID,Vilchez Juan Jesus¹²⁵²¹^ORCID

Affiliation:

1. Neuromuscular and Ataxias Research Group Health Research Institute Hospital La Fe (IIS La Fe) Valencia Spain

2. Centre for Biomedical Network Research on Rare Diseases (CIBERER); U763, CB06/05/0091 Valencia Spain

3. Hematology Research Group Health Research Institute Hospital La Fe (IIS La Fe) Valencia Spain

4. Centre for Biomedical Network Research on Cancer (CIBERONC); CB16/12/00284 Madrid Spain

5. Neuromuscular Referral Center, European Reference Network on Rare Neuromuscular Diseases (ERN EURO‐NMD) Universitary and Polytechnic La Fe Hospital Valencia Spain

6. Neuropediatric Department Universitary and Polytechnic La Fe Hospital Valencia Spain

7. Cardiology Department University and Polytechnic La Fe Hospital, IIS La Fe Valencia Spain

8. Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV) Valencia Spain

9. Genetics Department IIB Sant Pau, Hospital of Sant Pau Barcelona Spain

10. Centre for Biomedical Network Research on Rare Diseases (CIBERER) U705, U745, CB06/07/0011 Barcelona Spain

11. Genetics Unit Universitary and Polytechnic La Fe Hospital Valencia Spain

12. Neuromuscular Disorders Unit, Neurology Department, European Reference Network on Rare Neuromuscular Diseases (ERN EURO‐NMD) Hospital of Sant Pau Barcelona Spain

13. Autonomous University of Barcelona Barcelona Spain

14. Centre for Biomedical Network Research on Rare Diseases (CIBERER) U762, CB06/05/0030 Barcelona Spain

15. Neuromuscular Section, Neurology Service Cruces University Hospital Barakaldo Spain

16. Neurology Department, European Reference Network on Rare Neuromuscular Diseases (ERN EURO‐NMD) GMA Clinic Barcelona Spain

17. Calahorra Hospital Foundation Calahorra Spain

18. Duchenne Parent Project Spain Madrid Spain

19. Department of Cell Biology, Physiology, and Immunology, Faculty of Biology Barcelona Spain

20. Department of Applied Statistics and Operations Research, and Quality Polytechnic University of Valencia Valencia Spain

21. Department of Medicine University of Valencia Valencia Spain

Funder

Fundación Isabel Gemio

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26461

Reference49 articles.

1. DarrasBT UrionDK GhoshPS.Dystrophinopathies. GeneReviews® Last Update: January 20 2022 [Internet]. University of Washington Seattle;1993‐2022.

2. Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy

3. Dystrophin and mutations: one gene, several proteins, multiple phenotypes

4. Becker muscular dystrophy severity is linked to the structure of dystrophin

5. The “Usual Suspects”: Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy

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