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Updated: Sep 26, 2026
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
[Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease]
Wei Luo1, Beisha Tang, Guohua Zhao
1Department of Neurology, National Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410008 P. R. China. tangbeisha@yahoo.com
Objective:
To study the characteristic of the mutation of neurofilament-light (NF-L) gene in Chinese Charcot-Marie-Tooth disease (CMT) patients.
Methods:
Mutation analysis of NF-L gene was made by use of polymerase chain reaction-single strand conformation polymorphsim combined with DNA direct sequencing in 32 CMT probands from the Hans of five provinces in China who had been diagnosed by clinical feature and electromyography and/or biopsy of sural nerve.
Results:
In 32 CMT probands, only one sporadic case was found to display variant banding pattern, and this case was confirmed as 1329C to T (Tyr443Tyr) single nucleotide polymorphism by sequencing.
Conclusion:
Mutation of NF-L gene may be rare in Chinese CMT patients.
