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

  • deacetylation

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

  • as opposed to HF