About the Authors

Jonàs Juan-Mateu

Affiliations Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain, Universitat de Barcelona (UB), Barcelona, Spain

Lidia González-Quereda

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain

Maria José Rodríguez

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain

Edgard Verdura

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain

Kira Lázaro

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain

Cristina Jou

Affiliation Servei d'Anatomia Patològica Hospital Sant Joan de Déu, Barcelona, Spain

Andrés Nascimento

Affiliation Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Déu, Barcelona, Spain

Cecilia Jiménez-Mallebrera

Affiliation Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Déu, Barcelona, Spain

Jaume Colomer

Affiliation Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Déu, Barcelona, Spain

Soledad Monges

Affiliation Servicio de Neuropediatría, Hospital Nacional Pediátrico Garrahan, Buenos Aires, Argentina

Fabiana Lubieniecki

Affiliation Servicio de Patología, Hospital Nacional Pediátrico Garrahan, Buenos Aires, Argentina

Maria Eugenia Foncuberta

Affiliation Servicio de Genética, Hospital Nacional Pediátrico Garrahan, Buenos Aires, Argentina

Samuel Ignacio Pascual-Pascual

Affiliation Servicio de Neurología Pediátrica, Hospital Universitario Materno Infantil La Paz, Madrid, Spain

Jesús Molano

Affiliation Unidad de Genética Molecular and CIBERER U753, Hospital Universitario Materno Infantil La Paz, Madrid, Spain

Montserrat Baiget

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain

Pia Gallano

pgallano@santpau.cat

Affiliation Servei de Genètica, Hospital de la Santa Creu i Sant Pau and CIBERER U705, Barcelona, Spain

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: JJM PG. Performed the experiments: JJM LGQ MJR EV KL CJ CJM FL MEF JM. Analyzed the data: JJM PG. Contributed reagents/materials/analysis tools: AM JC SM SIPP MB. Wrote the paper: JJM PG.