Bethlem myopathy 1B

Term ID

DOID:0061199

Synonyms

Definition

A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A2 gene on chromosome 21q22. https://pubmed.ncbi.nlm.nih.gov/24038877/

References

• MIM:620725

Ontology

Human Disease   ( DOID:0061199 )