Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh Syndrome

Molecular Genetics and Metabolism - Tập 90 - Trang 10-14 - 2007
Cristina Ugalde1,2, Reetta Hinttala3,4, Sharita Timal1, Roel Smeets1, Richard J.T. Rodenburg1, Johanna Uusimaa3,5, Lambert P. van Heuvel1, Leo G.J. Nijtmans1, Kari Majamaa3,4,6, Jan A.M. Smeitink1
1Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Center, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands
2Centro de Investigación, Hospital Universitario “12 de Octubre,” Madrid, Spain
3Clinical Research Center, Oulu University Hospital, Finland
4Department of Neurology, University of Oulu, Finland
5Department of Pediatrics, University of Oulu, Finland
6Department of Neurology, University of Turku, Finland,

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