Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.

Autor: Tey S; Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia., Shahrizaila N; Department of Medicine, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia., Drew AP; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Samulong S; Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia., Goh KJ; Department of Medicine, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia., Battaloglu E; Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey., Atkinson D; Molecular Neurogenomics Group, VIB-U Antwerp Center for Molecular Neurology, University of Antwerp, 2610, Antwerpen, Belgium., Parman Y; Department of Neurology, Istanbul School of Medicine, Istanbul University, Istanbul, Turkey., Jordanova A; Molecular Neurogenomics Group, VIB-U Antwerp Center for Molecular Neurology, University of Antwerp, 2610, Antwerpen, Belgium., Chung KW; Department of Biological Sciences, Kongju National University, Gongju, South Korea., Choi BO; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea., Li YC; Department of Neurology, Taipei Veterans General Hospital, National Yang-Ming University School of Medicine, Taipei, 11221, Taiwan., Auer-Grumbach M; Department of Orthopedics and Trauma Surgery, Medical University of Vienna, 1090, Vienna, Austria., Nicholson GA; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia. marina.kennerson@sydney.edu.au.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia. marina.kennerson@sydney.edu.au.; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia. marina.kennerson@sydney.edu.au., Ahmad-Annuar A; Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia. azlina_aa@um.edu.my.

Publikováno v: Neurogenetics [Neurogenetics] 2019 Aug; Vol. 20 (3), pp. 117-127. Date of Electronic Publication: 2019 Apr 22.