Bethlem myopathy 2

info · Genetic

A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q.

Signs and symptoms

Flexion contracture
Distal joint hypermobility
Hypotonia
Motor delay
Kyphosis
Stooped posture
Muscle weakness
Proximal muscle weakness
Increased variability in muscle fiber diameter
Elevated circulating creatine kinase activity

Also known as: myopathic-type Ehlers-Danlos syndrome