Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.

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作者： Toru,Yamashita ^[1] ; Jun,Mitsui ^[2] ; Nobuyuki,Shimozawa ^[3] ; Shigeo,Takashima ^[3] ; Hiroshi,Umemura ^[4] ; Kota,Sato ^[1] ; Mami,Takemoto ^[1] ; Nozomi,Hishikawa ^[1] ; Yasuyuki,Ohta ^[1] ; Takashi,Matsukawa ^[2] ; Hiroyuki,Ishiura ^[2] ; Jun,Yoshimura ^[5] ; Koichiro,Doi ^[5] ; Shinichi,Morishita ^[5] ; Shoji,Tsuji ^[2] ; Koji,Abe ^[6]

作者单位： Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikatacho, Okayama 700-8558, Japan. ^[1] Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo 113-8655, Japan. ^[2] Division of Genomic Research, Life Science Research Center, Gifu University, Gifu 501-1193, Japan. ^[3] Department of Dermatology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikatacho, Okayama 700-8558, Japan. ^[4] Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 113-8655, Japan. ^[5] Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikatacho, Okayama 700-8558, Japan.. Electronic address: abekabek@cc.okayama-u.ac.jp. ^[6]

关键词 Cerebellar ataxia Compound heterozygote Peroxisome biogenesis disorder Peroxisome biogenesis factor 10 (PEX10)Point mutation Zellweger syndrome