Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy
Breana M. Jenkins, Lathan D. Dixon, Kevin J. Kokesh, Carla D. Zingariello et autres
Abstract Introduction/Aims The dystrophinopathies primarily affect males; however, female carriers of pathogenic dystrophin variants can develop skeletal muscle symptoms. This study aimed to evaluate muscle involvement and symptoms in females with dystrophinopathy using quantitative magnetic resonance imaging (MRI), functional assessments, and patient‐reported …
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