Term Name: | Bethlem myopathy |
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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 ) |