A hypomorphic allele partially reduces, but does not abolish, a gene product’s normal activity. It is a form of loss of function that retains residual activity, and the amount of residual function often tracks with milder disease. Hypomorphic alleles frequently pair with a null allele in recessive CMT subtypes.
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.
