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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Autor: Zazo Seco C; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Castells-Nobau A; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Joo SH; Department of Cellular Neurobiology, University of Göttingen, Göttingen 37077, Germany., Schraders M; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Foo JN; Human Genetics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore 138672, Singapore., van der Voet M; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Velan SS; Laboratory of Molecular Imaging, Singapore Bioimaging Consortium, A*STAR, Clinical Imaging Research Centre, NUS-A*STAR, Singapore 138667, Singapore.; Singapore Institute for Clinical Sciences, A*STAR, Clinical Imaging Research Centre, NUS-A*STAR, Singapore 117609, Singapore., Nijhof B; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Oostrik J; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., de Vrieze E; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Katana R; Department of Cellular Neurobiology, University of Göttingen, Göttingen 37077, Germany., Mansoor A; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan., Huynen M; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Szklarczyk R; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Oti M; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Department of Molecular Developmental Biology, Radboud University, Nijmegen 6525GA, The Netherlands., Tranebjærg L; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine (ICMM), The Panum Institute, University of Copenhagen, Copenhagen 2200, Denmark.; Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Bispebjerg Hospital/Rigshospitalet, Copenhagen 2400, Denmark.; Clinical Genetic Clinic, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup 2600, Denmark., van Wijk E; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Scheffer-de Gooyert JM; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Siddique S; National Institute of Rehabilitation Medicine (NIRM), Islamabad 44000, Pakistan., Baets J; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp 2610, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp 2000, Belgium.; Laboratories of Neurogenetics and Neuropathology, Institute Born-Bunge, University of Antwerp, Antwerp 2000, Belgium., de Jonghe P; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp 2610, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp 2000, Belgium.; Laboratories of Neurogenetics and Neuropathology, Institute Born-Bunge, University of Antwerp, Antwerp 2000, Belgium., Kazmi SA; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan., Sadananthan SA; Laboratory of Molecular Imaging, Singapore Bioimaging Consortium, A*STAR, Clinical Imaging Research Centre, NUS-A*STAR, Singapore 138667, Singapore.; Singapore Institute for Clinical Sciences, A*STAR, Clinical Imaging Research Centre, NUS-A*STAR, Singapore 117609, Singapore., van de Warrenburg BP; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Khor CC; Human Genetics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore 138672, Singapore.; Singapore Eye Research Institute, Singapore 168751, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 168751, Singapore., Göpfert MC; Department of Cellular Neurobiology, University of Göttingen, Göttingen 37077, Germany., Qamar R; COMSATS Institute of Information Technology, Islamabad 45550, Pakistan.; Al-Nafees Medical College & Hospital, Isra University, Islamabad 45600, Pakistan., Schenck A; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Kremer H; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Siddiqi S; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.

Publikováno v: Disease models & mechanisms [Dis Model Mech] 2017 Feb 01; Vol. 10 (2), pp. 105-118. Date of Electronic Publication: 2016 Dec 15.