Sumaira Kanwal
COMSATS University Islamabad Sahiwal Campus, Pakistan
Posters & Accepted Abstracts: J Neurol Neurophysiol
Neuromuscular disorder is a broad term that can include many diseases which can directly or indirectly disturbs the normal functioning of the nerve or neuromuscular junctions which ultimately disrupts the voluntary of the muscles. The disorders gives wide range of symptoms depending upon the pathways involved. Till now there is no cure however there are some pain management therapies. One of the most prevalent neuromuscular disorders is Charcot-Marie-Tooth disease, it is a heterogeneous disorder. CMT1A is primarily caused by PMP22 duplication or deletion. A large number of patients suffering from CMT1A were sequenced for its duplication or deletion tests. It was found that the patients having duplication also showed the variety of phenotypes ranging from early onset with severe phenotype and late to mild symptoms. Later the samples were analyzed for epigenetic analysis. And we found some interesting results. We found that mir-149 was associated with severity of the CMT1A disorder.
E-mail: Sumaira.kanwal@ciitsahiwal.edu.pk
