A repeat expansion is a variant in which a short DNA sequence is repeated many more times than normal. Expanded repeats can cause disease through a toxic gain of function at the RNA or protein level, and they can grow across generations. In CMT, a repeat expansion in NOTCH2NLC underlies a rare subtype.
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.
