Article
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.
Journal of the neurological sciences - 15 Apr 2017
Yamashita Toru, Mitsui Jun, Shimozawa Nobuyuki, Takashima Shigeo, Umemura Hiroshi, Sato Kota, Takemoto Mami, Hishikawa Nozomi, Ohta Yasuyuki, Matsukawa Takashi, Ishiura Hiroyuki, Yoshimura Jun, Doi Koichiro, Morishita Shinichi, Tsuji Shoji, Abe Koji
Abstract excerpt
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic...
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