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KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.

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第一作者： Jessica,Duis

第一单位： McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD. jduis1@jhmi.edu.

作者： Jessica,Duis ^[1] ; Shannon,Dean ^[2] ; Carolyn,Applegate ^[3] ; Amy,Harper ^[4] ; Rui,Xiao ^[5] ; Weimin,He ^[5] ; James D,Dollar ^[6] ; Lisa R,Sun ^[2] ; Marta Biderman,Waberski ^[7] ; Thomas O,Crawford ^[2] ; Ada,Hamosh ^[3] ; Carl E,Stafstrom ^[2]

作者单位： McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD. jduis1@jhmi.edu. ^[1] Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, MD. ^[2] McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD. ^[3] Carolinas Pediatric Neurology Care, Charlotte, NC. ^[4] Department of Molecular and Human Genetics, Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX. ^[5] Carolinas Pathology Group, Charlotte, NC. ^[6] Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. ^[7]