Biallelic means both copies (alleles) of a gene are affected. In recessive disease, both copies must carry a pathogenic variant for disease to appear, while a single working copy is usually enough for normal function. When both copies are non-functional, the term biallelic null is used. Many recessive CMT subtypes are biallelic, whether homozygous (the same variant on both copies) or compound heterozygous (a different variant on each).
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.
