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.
A Name That Does Too Much Work
Jean-Martin Charcot's name appears throughout medicine, but nowhere does it create more confusion than in the foot. Learn why the CMT foot and Charcot neuroarthropathy, also known as Charcot foot, share a name yet differ in how they develop, appear, and are managed.
