Contents

Search

Bethlem myopathy

Epidemiology: - rare Genetics: - autosomal dominant - associated with defects in type-6 collagen - COL6A1, COL6A2, COL6A3 [2] Clinical manifestations: - proximal myopathy - early childhood onset (complete penetrance by the age of 5) - joint contractures most frequently affecting the elbows & ankles

Related

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

General

genetic disease of muscle (inherited myopathy)

Database Correlations

OMIM 158810

References

  1. Wikipedia, collagen entry http://en.wikipedia.org/wiki/collagen
  2. OMIM :accession 158810