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

Genetics: - autosomal recessive - associated with defects in type-6 collagen - COL6A1, COL6A2, COL6A3 [2] Clinical manifestations: - muscle weakness - multiple joint contractures - generally noted at birth or early infancy - clinical course is more severe than in Bethlem myopathy

Related

Bethlem myopathy

General

muscular dystrophy

Database Correlations

OMIM 254090

References

  1. Wikipedia, collagen entry http://en.wikipedia.org/wiki/collagen
  2. OMIM :accession 254090