Four new mutations in the gene GJB1 have been identified, joining the growing list of mutations that can cause Charcot-Marie-Tooth disease (CMT). The study, titled “New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease,” was published in the Journal of the Peripheral Nervous System. CMT can be caused…
An 11-year-old girl was diagnosed with Charcot-Marie-Tooth (CMT) disease only after the disease-causing mutation was detected by whole-genome sequencing, after being missed by other detection methods, according to a case report. This case highlights how in-depth genetic sequencing technologies might be the most reliable for diagnosing genetic diseases…
Gene therapy can be of benefit even after neuropathy has begun, research in a mouse model of X-linked Charcot-Marie-Tooth disease (CMTX) found. The study, “Gene therapy after onset of neuropathy provides therapeutic benefit in a model of CMT1X,” was presented by Kleopas Kleopa at the 2019 American…
A new study reports a mutation in the gene EGR2 that caused Charcot-Marie-Tooth disease type 2 (CMT2) in an Italian family. The study, “A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene,” was published in Journal of the Peripheral Nervous System. The…
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