A neomorphic variant is a gain of function in which the mutant protein acquires a novel activity that the normal protein does not have, such as toxic aggregation or aberrant binding to new partners. The harm is not explained by more or less of the normal activity, but by a new one. In CMT, several dominant subtypes act through neomorphic aggregation.
When Medicine Lost Its Compass
Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.
