People with Charcot-Marie-Tooth disease (CMT) may have difficulties in understanding speech, even in the absence of hearing loss, caused…
Articles by Marisa Wexler, MS
Testing for large deletions or duplications in certain DNA regions, a form of mutation called copy number variations, is important…
A newly identified mutation in the MCM3AP gene caused Charcot-Marie-Tooth disease (CMT) in a girl with early motor…
A yeast model could be used to assess the biological consequences of mutations in the GDAP1Â gene, which…
New genetic technologies like whole-exome sequencing can be used to more quickly diagnose specific subtypes of Charcot-Marie-Tooth disease…
Some patients with Charcot-Marie-Tooth Disease type X (CMTX) exhibit cognitive deficits, such as difficulties with executive function and…
Central nervous system (CNS) dysfunction, manifesting as reversible posterior leukoencephalopathy , was observed in three people with…
A newly discovered mutation in the gene EGR2Â causes a severe form of Charcot-Marie-Tooth disease type 3 (CMT3), according to…
Using CRISPR/Cas9 technology to reduce the expression of the gene PMP22 in nerve cells can improve nerve functioning and limit…
A novel mutation in the gene PRPS1 was identified in the first case of X-linked Charcot-Marie-Tooth disease type 5 (CMTX5)…