Muscular Distrophies Flashcards
1
Q
What is the cytoskeleton of the cell
A
Structural protein of the cell that help with mobility and growth.
2
Q
Kinds of proteins in Cytoskeleton
A
- Microfilaments: Cell movement in muscles (Actin)
- Intermediate filaments: Cell structure (Queratin)
- Microtubules
- Citoskeletic protein
3
Q
Duchenne Muscular Distrophy is caused by
A
Frameshift mutation in Dystrophin gene
4
Q
Dystrophin gene codes a protein: function of this protein
A
Connects cytoskeleton of muscle cells to Extracellular matrix
5
Q
Duchenne MD clinical features
A
Proximal weakness + Gower Sign + Calves Hyperplasia + Dilated Cardiomyopathy + Elevated CPK
6
Q
Becker Muscular Dystrophy
A
Less severe mutation in Dystrophin gene
7
Q
Becker MD clinical features
A
Similar to Duchenne’s but develops later on life (early adulthood)
8
Q
Muscular Distrophies follows a ______________ inheritance pattern
A
X-Linked
