Disease | Trinucleotide Repeat | Mode of Inheritance | Mnemonic |
---|---|---|---|
Huntington disease | (CAG)n | AD | Caudate has ↓ ACh and GABA |
Myotonic dystrophy | (CTG)n | AD | Cataracts, Toupee (early balding in males), Gonadal atrophy in males, reduced fertility in females |
Fragile X syndrome | (CGG)n | XD | Chin (protruding), Giant Gonads |
Friedreich ataxia | (GAA)n | AR | Ataxic GAAit |