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Metadata
DOID DOID:0050663
Name Bethlem myopathy
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
Synonyms

benign congenital muscular dystrophy [EXACT]

Xrefs

GARD:873

OMIM:158810

Relationships

is_a congenital muscular dystrophy

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