DNA sequencing test finds answers for patients with inherited muscle disease

Skin samples from people with a suspected genetic myopathy were examined for confirmation of disease. Brown spots show abnormal protein buildup inside the nuclei of cells (purple), typical of a type of myopathy called oculopharyngodistal myopathy.

Credit: Garvan Institute A test developed by researchers at the Garvan Institute of Medical Research has identified the genetic cause of inherited muscle disease in people who remained without answers after years, sometimes decades, of standard testing. It is the first test of its kind in the world.

First reported by Medical Xpress.