Accepted for Publication: February 6, 2012.
Published Online: April 9, 2012. doi:10.1001/archneurol.2012.206. Corrected on May 2, 2012.
Author Contributions: All authors contributed equally to this article. Study concept and design: Emmanuele, DiMauro, Quinzii, and Hirano. Acquisition of data: Emmanuele, López, Berardo, Naini, Tadesse, Wen, D’Agostino, Solomon, Quinzii, and Hirano. Analysis and interpretation of data: Emmanuele, López, Berardo, DiMauro, Quinzii, and Hirano. Drafting of the manuscript: Emmanuele, López, Solomon, Quinzii, and Hirano. Critical revision of the manuscript for important intellectual content: Emmanuele, Berardo, Naini, Tadesse, Wen, D’Agostino, DiMauro, Quinzii, and Hirano. Statistical analysis: Emmanuele and Solomon. Obtained funding: Quinzii and Hirano. Administrative, technical, and material support: Emmanuele, López, Naini, Tadesse, Wen, and Hirano. Study supervision: Emmanuele, DiMauro, and Quinzii.
Financial Disclosure: None reported.
Funding/Support: This study was supported by grants K23HD065871 (Dr Quinzii) and 1R01HD057543 (Dr Hirano) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Dr Hirano's work is supported by grants R01HD056103 and 1RC1NS070232 from the National Institutes of Health, as well as grants from the Muscular Dystrophy Association and the Marriott Mitochondrial Disorder Clinical Research Fund.
Additional Contributions: We are grateful to all of the patients and relatives for their participation. We thank all of the clinicians who referred patients and samples to us.