Bethlem myopathy

Epidemiology

• rare

Genetics

• autosomal dominant
• associated with defects in type-6 collagen
  • COL6A1, COL6A2, COL6A3

Clinical manifestations

• proximal myopathy
• early childhood onset (complete penetrance by the age of 5)
• joint contractures most frequently affecting the elbows & ankles

More general terms

• genetic disease of muscle (inherited myopathy)

Additional terms

• Ullrich myopathy; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy

Database

• OMIM: https://mirror.omim.org/entry/158810