A new variante of INF2gene mutation: Correlation with CharcotMarieTooth type E neuropathy
作者: Stefan Bittmann, Luchter E , Weissenstein A , Villalon G
刊名: Journal of Pediatric Diseases, 2018, Vol.2 (2)
来源数据库: EnPress Publisher
DOI: 10.24294/jpedd.v2i2.937
关键词: INF 2MutationChildCMT disease
原始语种摘要: Charcot-Marie-Tooth disease (CMT) affects 1 in 2500 people and more than 30 gene mutations play a causative role. It is the eponym for heritable peripheral neuropathy and is named for 3 investigators in the late 1800s. Different forms of CMT exist and the classification is still not completely ruled out. Mutations of the inverted formin-2 gene (INF-2) were identified in patients with focal segmental glomerulosclerosis[1](FSGS) and autosomal dominant intermediate Charcot-Marie Tooth (DI-CMT) disease. A novel unclassified variante, c.2659GA; p.E887K(het.), located on chromosome 14q32.33, was identified in a 21 months old child with unknown peripheral neuropathy and muscular weakness. The mutation leads to a change of amino acid glutamate to lysine in position 887. This variante was not...
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  • neuropathy 神经病
  • formin 甲酸精
  • eponym 人名名词
  • CMT Cassette Magnetic Tape
  • Mutation 突变
  • mutation 变种
  • literature 文献
  • completely 完全
  • causative 表示原因的
  • weakness 无力