Conditions / Genetic
Bethlem myopathy 1C
info · Genetic
A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37.
Signs and symptoms
- Muscle weakness
- Joint contracture
- Kyphosis
- Motor delay
- Proximal muscle weakness