Bethlem myopathy demonstrated in three generations of a rural West Virginia family carrying an autosomal dominant COL6A3 mutation

Mutations in the genes that code for type VI collagen can lead to what are known as collagenopathies (collagen myopathies), such Bethlem myopathy (BTHLM1), which affect structural tissues like muscles and tendons. We present case of a young female her two relatives, who were discovered share autosomal dominant COL6A3 mutation whose presentation clinic varied from mild severe. Type represent clinically genetically heterogeneous spectrum disorders generally characterized by muscle weakness joint contractures. highlight importance examining close relatives whenever possible documenting pedigree prior proceeding with further electromyography (EMG) lab work up, includes obtaining genetic testing order reach unifying diagnosis. The proband (L.C.) reported challenges activities daily living due distal hand weakness, had significant findings on neuromuscular exam, abnormalities needle EMG testing. Five have trouble day-to-day function. Her mother (M.C.) maternal grandfather (W.C.) able be examined person condition confirmed.