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

Genetics

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

Clinical manifestations

• muscle weakness
• multiple joint contractures
• generally noted at birth or early infancy
• clinical course is more severe than in Bethlem myopathy

More general terms

• muscular dystrophy

Additional terms

• Bethlem myopathy

Database

• OMIM: https://mirror.omim.org/entry/254090