Re: CMT 1X: Two novel mutations of GJB1 gene associated with typical X linked CM

[Guest guest]

,

This research objective was to analyze the relationship between phenotype and

genotype and the role of immune cells in the pathogenesis of X-linked

Charcot-Marie-Tooth disease (CMT1X).

Genotype means DNA marker. Phenotype refers to how the disease

progresses/manifests itself in a person.

The two novel GJB1 gene mutations cause a spectrum( range) of clinical

manifestations of CMT1X. In other words, CMT 1X symptoms are very diverse and

different, as is the disease progression.

This study also suggests that the immune system might be involved in CMT 1X.

Gretchen