Bethlem myopathy

Bthlm1

Benign congenital muscular dystrophy

Benign congenital myopathy with contractures

Benign autosomal dominant myopathy

Bethlem myopathy 1

Bethlem myopathy 1; bthlm1

Bethlem myopathy type 1

Lgmdd5

Muscular dystrophy, benign congenital

Muscular dystrophy, limb-girdle, autosomal dominant 5

Myopathy, benign congenital, with contractures

NCBI-RefSeq:  COL6A3   (Collagen type VI alpha 3 chain)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  COL12A1   (Collagen type XII alpha 1 chain)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  COL6A1   (Collagen type VI alpha 1 chain)

External Links:  gnomAD browser   Ensembl   GeneCards

NCBI-RefSeq:  COL6A2   (Collagen type VI alpha 2 chain)

External Links:  gnomAD browser   Ensembl   GeneCards