Lichao Sun, Xiaoyan Ma, Zhenya Chen, Qin Zou, Yixin Huo
[Interdisciplinary teaching-assisted education reform in "Principal Biology"]
Sheng wu gong cheng xue bao = Chinese journal of biotechnology
study aimed report nine charcotmarietooth disease cmt families six novel ighmbp2 mutations cmt2 cohort summarize genetic clinical features arcmt2s patients reported worldwide general information clinical neurophysiological data 275 axonal cmt families collected genetic screening performed inherited peripheral neuropathy related genes panel whole exome sequencing published papers reporting arcmt2s 2014 2023 searched pubmed wanfang databases cmt2 cohort detected 17 arcmt2s families carrying ighmbp2 mutations eight published previously among c743 pval248glu c884a g pasp295gly c1256c pser419 c25982599delga plys868sfs16 c16941696delatg pasp565del c2509a parg837 firstly reported patients prominently presented earlyonset typical axonal neuropathy without respiratory dysfunction far 56 arcmt2s patients 57 different mutations coming 43 families reported world twentynine 32 missense mutations clustered helicase domain atpase region age onset ranged 011to 20 years mean sd 343 388 years majority infantileonset 2 years initial symptoms included weakness limbs 19 297 delayed milestones 12 188 gait disturbance 11 172 feet deformity 8 125 feet drop 8 125 etc interpretation arcmt2s accounted 62 cmt2 cohort firstly reported six novel ighmbp2 mutations expanded genotypic spectrum arcmt2s furthermore 17 arcmt2s families could provide resources natural history study drug research development