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.
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.
