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

Links to this note

• step 1 Genetics
  • Trinucleotide Disorders