Human genes for Bethlem myopathy
Bethlem myopathy [DOID:0050663]
A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.
Synonyms: Bethlem myopathy, Bethlem myopathies, DOID:0050663, benign congenital muscular dystrophy, benign congenital muscular dystrophies
Linkouts: OMIM