A new MFN2 mutations database, defined by our researchers within the study G. Stuppia, et to the., MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives, J Neurol Ski (2015) , has just been published on our website.
It is a chart with a list of MFN2 mutations reported in literature. There are 8 columns containing:
- the portion of the gene that codifies the protein: Esone;
- Protein that changes;
- ethnic origin of the patient: Ethnicity;
- Onset age of the neuropathy;
- Symptoms at onset of the CMT;
- the scientific study in which the mutation is quoted and analyzed (Reference);
- Additional remarks about the illness the mutation is going to cause.
We feel we should share this file because it might be very useful not only for those who doesn’t know which mutation is causing their neuropathy yet, but also for people who are still looking for a diagnosis. It is also interesting for those who know, but want to learn more about our CMT.
Have a look:
Let us know if you have found your mutation inside the chart!