Submitted for Publication: November 21, 2014; final revision received February 3, 2015; accepted February 10, 2015.
Published Online: April 6, 2015. doi:10.1001/jamaneurol.2015.0178.
Study concept and design: Ripolone, Ronchi, Berardinelli, Mora, Sciacco, Comi, Moggio.
Acquisition, analysis, or interpretation of data: All authors.
Drafting of the manuscript: Ripolone, Ronchi, Sciacco, DiMauro, Comi, Moggio.
Critical revision of the manuscript for important intellectual content: All authors.
Statistical analysis: Ronchi, Colombo, Villa.
Administrative, technical, or material support: Violano, Vallejo, Fagiolari, Barca, Lucchini, Bordoni, Fortunato, Parisi.
Study supervision: Sciacco, DiMauro, Comi, Moggio.
Conflict of Interest Disclosures: None reported.
Funding/Support: This study was supported by grant P01HD032062-20 from the National Institutes of Health (Dr DiMauro) and by grant 2012-0513 from the Foundation Cariplo (Dr Corti). The Italian Association of Myology; Associazione Amici del Centro Dino Ferrari, University of Milan; Eurobiobank; and Telethon network of Genetic biobanks (grant number GTB12001) provided human biological samples.
Role of the Funder/Sponsor: The funding sources had no role in the design and conduct of the study; collection, management, analysis, or interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Additional Contributions: The postmortem biopsy samples were provided by Wendy K. Chung, MD, PhD, Columbia University Medical Center.
Correction: This article was corrected on August 27, 2015, to fix the Author Affiliations.