Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Bethlem myopathy

MONDO:0008029

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

6 clinical trials for this condition and its sub-types, 0 tagged with Bethlem myopathy itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Sub-types of Bethlem myopathy

Sort by