Term Name: Bethlem myopathy
Synonyms: benign congenital muscular dystrophy
Definition: 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.
Ontology: Human Disease [DOID:0050663]   ( DOID:0050663 )

Relationships
is a type of: congenital muscular dystrophy