Cytoskeleton

Question 1

Duchenne Muscular Dystrophy (DMD)

Answer 1

Dystrophin (connects actin to a,B Dystroglycan, a transmembrane protein) is absent. Dystrophin stabilizes interactions b/t cytoskeleton and extracellular matrix
abdomen protrude forward, shoulders back, enlarged calves d/t scar tissue

Question 2

Becker’s Muscular Dystrophy (MD)

Answer 2

some Dystrophin expression. less severe than DMD.

Question 3

other muscular dystrophies

Answer 3

can also result from aB Dystroglycan mutation

Question 4

Hereditary Spherocytosis

Answer 4

defect in Spectrin, protein connects cysoskeleton to plasma membrane. RBCs especially fragile. anemia–>splenomegaly. gallstones d/t bilirubin from heme degradation