Trinucleotide Disorders


- polymorphic: many forms include variable number of repeats from person to person

- more repeats with each generation
Fragile X





- symptoms similar to down syndrome
Frederich's Ataxia

- brain, heart, pancreas depend on mitochondria

Huntington


Myotonic Dystrophy

- muscle disorder along with DMD, becker

- loss of myotonic dystrophy protein kinase
- CTG

- later than other muscular dystrophies

- triad: Cataracts, Toupee, Gonadal atrophy






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