Accepted for Publication: January 12, 2015.
Published Online: May 4, 2015. doi:10.1001/jamaneurol.2015.37.
Study concept and design: Zukosky, Meilleur, Traynor, Rooney, Bönnemann.
Acquisition, analysis, or interpretation of data: All authors.
Drafting of the manuscript: Zukosky, Meilleur, Johnson, Bönnemann.
Critical revision of the manuscript for important intellectual content: Meilleur, Traynor, Dastgir, Medne, Devoto, Collins, Rooney, Zou, Yang, Gibbs, Meier, Stetefeld, Finkel, Schessl, Elman, Felice, Ferguson, Ceyhan-Birsoy, Beggs, Tennekoon, Johnson, Bönnemann.
Statistical analysis: Devoto, Ceyhan-Birsoy.
Obtained funding: Traynor, Meier, Beggs, Bönnemann.
Administrative, technical, or material support: Collins, Rooney, Zou, Yang, Gibbs, Schessl, Felice, Ferguson, Tennekoon, Bönnemann.
Study supervision: Traynor, Meier, Beggs, Bönnemann.
Conflict of Interest Disclosures: Ms Medne is a consultant for BioReference Laboratories, Elmwood Park, NJ. Dr Ferguson is a full-time employee of Biogen Idec and owns stock in Biogen Idec. No other disclosures were reported.
Funding/Support: This study was funded in part by the Division of Intramural Research of the National Institutes of Neurological Disorders and Stroke and the National Institute on Aging. This work was supported in part by National Institutes of Health grants R01 HD075802 and R01 AR044345, the Muscular Dystrophy Association (United States) MDA201302, the AUism Charitable Foundation, and A Foundation Building Strength (Dr Beggs). Dr Stetefeld is a Canada Research Chair in Structural Biology, and this research was funded by the Canadian Institute of Health Research/Manitoba Health Research Council Regional Partnership Program Grant RPA-109759. Dr Ceyhan-Birsoy was supported by a Dubai-Harvard Foundation for Medical Research postdoctoral fellowship and a Schlumberger Foundation Faculty for the Future grant.
Role of the Funder/Sponsor: The funding organizations had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Additional Contributions: We thank the patients and their unaffected family members for their participation in this study. Elizabeth Hartnett scheduled the patient visits at the National Institutes of Health. Nigel Laing, PhD (Australian Neuromuscular Research Institute and Royal Perth Hospital), provided the vector for the cell transfections. No financial compensation was given for their services.
Correction: This article was corrected on July 9, 2015, to remove redundant information from the Discussion and to correct a reference.