Bethlem myopathy

A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.

Also known as: Bethlem myopathy type 1, benign autosomal dominant myopathy, BTHLM1, Bethlem myopathy 1

40 clinical trials for this condition and its sub-types.