pmp22

Other than paying for the app, is there any way we can support this?

Thank you for doing this.

Are yours and his mutation identical? Is it within Nav1.7 or not? Is yours described in the literature? It seems like the obvious culprit, though I'm sure you've tried to rule it out already. Just to be creative though, what if it's a gain-of-function missense mutation, but your father happens to have a single nucleotide polymorphism in the microRNA that targets it so that it's not expressed in him but it is in you? He would probably show some kind of symptoms in such a case though?

Can you differentiate between various temperatures? Was the amplitude on the NCV normal? Did the biopsies show any indication of axonal degeneration?

I'm not sure deliberately induced immunosuppression is part of standard differential diagnosis protocols. But if you were determined to try it, wouldn't it be better to try immunosuppressive drugs that were selected based on educated guesses about the underlying etiology given under the guidance of a specialist?

Some shots in the dark, is SCN9A / SCN10A okay? Reflexes okay? All Charcot Marie Tooth genotypes ruled out (even the esoteric de novo ones)? Any immune responses that corelate with the "flare up" of symptoms? What did the NCV test show? Is Boreliosis ruled out? Maybe if it's a point mutation or SNP it's "hiding" in one of the errors in the assembly? Don't ever give up the search for the answer, there is always a reason.

Edit: I looked through your answers now, feel free to discard the obvious misses. Do you have your entire case history written somewhere? I'm willing to put my two uneducated eyes on it.

For simulating the living, I wonder if you could use the Visible Human 3D models as a template for finite element analysis? Do you know if it have been done?

This presentation mentions scan data but surely the Visual Human data has even better fidelity.

https://simtk.org/svn/openknee/doc/msm_2015.pdf