Art

J-GLOBAL ID：201502245612190153   Reference number：15A0261852

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher病を模倣するミエリン形成減少の患者における新規TUBB4A変異

Author (10)： SHIMOJIMA Keiko (Precursory Res. for Embryonic Sci. and Technol. (PRESTO), Japan Sci. and Technol. Agency (JST), Kawaguchi, JPN) ,  SHIMOJIMA Keiko (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sciences, Tokyo, JPN) ,  OKUMURA Akihisa (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, Tokyo, JPN) ,  OKUMURA Akihisa (Dep. of Pediatrics, Aichi Medical Univ., Nagakute, JPN) ,  IKENO Mitsuru (Dep. of Pediatrics, Juntendo Univ. Fac. of Medicine, Tokyo, JPN) ,  NISHIMURA Akira (Dep. of Pediatrics, Kyoto Prefectural Univ. of Medicine, Kyoto, JPN) ,  SAITO Akira (Statistical Genetics Analysis Div., StaGen Co., Ltd., Tokyo, JPN) ,  SAITSU Hirotomo (Dep. of Human Genetics, Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  MATSUMOTO Naomichi (Dep. of Human Genetics, Yokohama City Univ. Graduate School of Medicine, Yokohama, JPN) ,  YAMAMOTO Toshiyuki (Tokyo Women’s Medical Univ. Inst. for Integrated Medical Sciences, Tokyo, JPN)
Material： Brain & Development  (Brain & Dev)
Volume： 37  Issue： 3  Page： 281-285  Publication year： Mar. 2015 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： *congenital disease ,...
Semi thesaurus term： genetic variation ,...

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JST classification (2)： Nervous system diseases  (GN03000O) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (18)：

• Yamamoto T, Shimojima K. Pelizaeus-Merzbacher disease as a chromosomal disorder. Congenit Anom (Kyoto) 2013;53:3-8.
• Wolf NI, Harting I, Innes AM, Patzer S, Zeitler P, Schneider A, et al. Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy. Neuropediatrics 2007;38:64-70.
• Timmons M, Tsokos M, Asab MA, Seminara SB, Zirzow GC, Kaneski CR, et al. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology 2006;67:2066-9.
• Sasaki M, Takanashi J, Tada H, Sakuma H, Furushima W, Sato N. Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. Brain Dev 2009;31:582-7.
• Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, et al. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet 2011;89:644-51.

Terms in the title (5)： Pelizaeus-Merzbacher病 ,  模倣 ,  ミエリン形成減少 ,  患者 ,  変異