Portal de Periódicos da CAPES

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations

2018; Wiley; Volume: 94; Issue: 3-4 Linguagem: Inglês

10.1111/cge.13378

1399-0004

Tetsuya Okazaki, Yoshiaki Saito, Tsunefusa Hayashida, S. Akaboshi, Noriko Miyake, Naomichi Matsumoto, Noriko Kasagi, Kaori Adachi, Yuki Shinohara, Eiji Nanba, Yoshihiro Maegaki,

RNA regulation and disease

Clinical GeneticsVolume 94, Issue 3-4 p. 391-392 LETTER TO THE EDITOR Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations T. Okazaki, Corresponding Author T. Okazaki t-okazaki@med.tottori-u.ac.jp orcid.org/0000-0003-3842-9294 Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan Correspondence Tetsuya Okazaki, MD, Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago 683-8504, Japan. Email: t-okazaki@med.tottori-u.ac.jpSearch for more papers by this authorY. Saito, Y. Saito Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, JapanSearch for more papers by this authorT. Hayashida, T. Hayashida Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, JapanSearch for more papers by this authorS. Akaboshi, S. Akaboshi Division of Child Neurology, Tottori Medical Center, Tottori, JapanSearch for more papers by this authorN. Miyake, N. Miyake orcid.org/0000-0003-0987-310X Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorN. Matsumoto, N. Matsumoto Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorN. Kasagi, N. Kasagi Division of Clinical Genetics, Tottori University Hospital, Yonago, JapanSearch for more papers by this authorK. Adachi, K. Adachi Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago, JapanSearch for more papers by this authorY. Shinohara, Y. Shinohara Division of Radiology, Department of Pathophysiological Therapeutic Science, Faculty of Medicine, Tottori University, Yonago, JapanSearch for more papers by this authorE. Nanba, E. Nanba Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago, JapanSearch for more papers by this authorY. Maegaki, Y. Maegaki Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan Division of Clinical Genetics, Tottori University Hospital, Yonago, JapanSearch for more papers by this author T. Okazaki, Corresponding Author T. Okazaki t-okazaki@med.tottori-u.ac.jp orcid.org/0000-0003-3842-9294 Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan Correspondence Tetsuya Okazaki, MD, Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago 683-8504, Japan. Email: t-okazaki@med.tottori-u.ac.jpSearch for more papers by this authorY. Saito, Y. Saito Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, JapanSearch for more papers by this authorT. Hayashida, T. Hayashida Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, JapanSearch for more papers by this authorS. Akaboshi, S. Akaboshi Division of Child Neurology, Tottori Medical Center, Tottori, JapanSearch for more papers by this authorN. Miyake, N. Miyake orcid.org/0000-0003-0987-310X Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorN. Matsumoto, N. Matsumoto Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorN. Kasagi, N. Kasagi Division of Clinical Genetics, Tottori University Hospital, Yonago, JapanSearch for more papers by this authorK. Adachi, K. Adachi Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago, JapanSearch for more papers by this authorY. Shinohara, Y. Shinohara Division of Radiology, Department of Pathophysiological Therapeutic Science, Faculty of Medicine, Tottori University, Yonago, JapanSearch for more papers by this authorE. Nanba, E. Nanba Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago, JapanSearch for more papers by this authorY. Maegaki, Y. Maegaki Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan Division of Clinical Genetics, Tottori University Hospital, Yonago, JapanSearch for more papers by this author First published: 10 June 2018 https://doi.org/10.1111/cge.13378Citations: 5Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Graphical Abstract LAMB1 gene analysis should be considered for intellectually disabled patients with cerebellar cysts, white matter signal change, and cortical malformation. Muscular involvement is absent, in contrast to the α-dystroglycanopathy types of congenital muscular dystrophies. Citing Literature Volume94, Issue3-4October 2018Pages 391-392 RelatedInformation