I have my results back for the DOK7 gene test. It says:

"In this patient's DOK7 gene no sequence variants were found that are likely to cause familial limb girdle myasthenic syndrome.

Four sequence variants were found that are unlikely to be causative although one is yet undocumented."

Is it normal to have gene variants for other reasons ? I feel like a mutant now Could this un named variant be a variant of CMS not yet discovered ?

I still find the symptoms are there if I don't take my albuterol. At this stage I guess I keep taking it ? Neuro will not rx Mestinon so have nothing else really.

Is it normal to have an enlarged thymus for other reasons ? Or can the AChR test show a positive after a few years of negatives ? Should my GP just keep doing annual checks for that ?