About the Authors

Yvonne D. Krom

Contributed equally to this work with: Yvonne D. Krom, Peter E. Thijssen

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Peter E. Thijssen

Contributed equally to this work with: Yvonne D. Krom, Peter E. Thijssen

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Janet M. Young

Affiliation Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America

Bianca den Hamer

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Judit Balog

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Zizhen Yao

Affiliation Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America

Lisa Maves

Affiliation Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America

Lauren Snider

Affiliation Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America

Paul Knopp

Affiliation King's College London, Randall Division of Cell and Molecular Biophysics, Guy's Campus, London, United Kingdom

Peter S. Zammit

Affiliation King's College London, Randall Division of Cell and Molecular Biophysics, Guy's Campus, London, United Kingdom

Tonnie Rijkers

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Baziel G. M. van Engelen

Affiliation Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

George W. Padberg

Affiliation Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Rune R. Frants

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Rabi Tawil

Affiliation Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, New York, United States of America

Stephen J. Tapscott

stapscot@fhcrc.org (SJT); S.M.Maarel@lumc.nl (SMvdM)

Affiliation Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America

Silvère M. van der Maarel

stapscot@fhcrc.org (SJT); S.M.Maarel@lumc.nl (SMvdM)

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: YDK PET TR RRF RT SJT SMvdM. Performed the experiments: YDK PET BdH JB LM LS PK TR. Analyzed the data: YDK PET JMY BdH ZY LM TR SJT SMvdM. Contributed reagents/materials/analysis tools: PK PSZ BGMvE GWP RT. Wrote the paper: YDK PET JMY SJT SMvdM.