Conditions / Genetic
Miyoshi muscular dystrophy 3
info ยท Genetic
A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Distal lower limb muscle weakness
- Quadriceps muscle atrophy
- Difficulty climbing stairs
- Difficulty running
- Muscular dystrophy
- Quadriceps muscle weakness
- Calf muscle hypertrophy
- Distal upper limb muscle weakness
Also known as: MMD3; Miyoshi myopathy 3