About the Authors

Sonia Paco

Contributed equally to this work with: Sonia Paco, Teresa Casserras

‡ These authors are co-first authors on this work.

Affiliation Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, Barcelona, Spain

Teresa Casserras

Contributed equally to this work with: Sonia Paco, Teresa Casserras

‡ These authors are co-first authors on this work.

Affiliation Bioinformatics Core Facility, IDIBAPS, Hospital Clinic, Barcelona, Spain

Maria Angels Rodríguez

Affiliation Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, Barcelona, Spain

Cristina Jou

Affiliation Pathology Department, Hospital Sant Joan de Déu, Barcelona, Spain

Montserrat Puigdelloses

Affiliation Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, Barcelona, Spain

Carlos I. Ortez

Affiliation Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, Barcelona, Spain

Jordi Diaz-Manera

Affiliation Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain

Eduardo Gallardo

Affiliation Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain

Jaume Colomer

Affiliation Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, Barcelona, Spain

Andrés Nascimento

Affiliations Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, Barcelona, Spain, Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Susana G. Kalko

Affiliation Bioinformatics Core Facility, IDIBAPS, Hospital Clinic, Barcelona, Spain

Cecilia Jimenez-Mallebrera

cjimenezm@hsjdbcn.org

Affiliations Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, Barcelona, Spain, Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: SGK CJM. Performed the experiments: SP TC MAR MP CJM. Analyzed the data: SP TC CJ CIO JDM EG AN JC SGK CJM. Contributed reagents/materials/analysis tools: CIO JDM EG AN JC. Wrote the paper: SP TC MAR CJ CIO JDM EG AN JC SGK CJM.