Table 2.
SMA | ALS | SBMA | ||
---|---|---|---|---|
Muscle physiology | Muscle atrophy | ✓ | ✓ | ✓ |
Reduced strength | ✓ | ✓ | ✓ | |
Mitochondrial dysfunction | ✓ * | |||
Atrogene expression | ✓ | ✓ * | ||
Sarcomere defects | ✓ * | |||
Development | Reduced Proliferation | ✓ * | ||
Fusion defects | ✓ * | ✓ * | ✓ * | |
Aberrant expression of proteins important for muscle function | ✓ | ✓ | ||
Change in satellite cell number | ✓ * | |||
Impaired postnatal growth | ✓ * | |||
Cell death | Increase in satellite cell apoptosis | ✓ * | ||
Increase in cell death pathway expression | ✓ * | |||
Myofiber degeneration | ✓ * |
Denotes defects that have been shown to be muscle intrinsic.