Accepted for Publication: February 23, 2012.
Published Online: September 10, 2012. doi:10.1001/archneurol.2012.405
Author Contributions:Study concept and design: Garone, Mootha, and Hirano. Acquisition of data: Garone, Calvo, Naini, Tanji, Mootha, and Hirano. Analysis and interpretation of data: Garone, Rubio, Calvo, Tanji, DiMauro, Mootha, and Hirano. Drafting of the manuscript: Garone, Rubio, and Hirano. Critical revision of the manuscript for important intellectual content: Calvo, Naini, Tanji, DiMauro, Mootha, and Hirano. Statistical analysis: Calvo and Mootha. Obtained funding: Mootha and Hirano. Administrative, technical, and material support: Garone, Rubio, Naini, Tanji, Mootha, and Hirano. Study supervision: Naini, DiMauro, Mootha, and Hirano.
Financial Disclosure: None reported.
Funding/Support: Dr Garone is supported by the Associazione Malattie Metaboliche Congenite ereditarie. Dr Hirano is supported by National Institutes of Health grants R01HD056103, 1R01HD057543, and U54NS078059, by a Muscular Dystrophy Association grant, and by the Marriott Mitochondrial Disorder Clinical Research Fund.
Additional Contributions: We are grateful to the patient and his relatives for participating in this study.