Bethlem myopathy

Term ID

DOID:0050663

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. https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy

References

• GARD:873
• MESH:C535436
• OMIM:158810

Ontology

Human Disease   ( DOID:0050663 )