Disease-gene associations mined from literature

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