Musculoskeletal, Neural, and Ocular Physiology Commons^™

Early Morphological Changes Of The Rectus Femoris Muscle And Deep Fascia In Ullrich Congenital Muscular Dystrophy, Patrizia Sabatelli, Luciano Merlini, Alberto Di Martino, Vittoria Cenni, Cesare Faldini

Department of Medicine Faculty Papers

Ullrich congenital muscular dystrophy (UCMD) is a severe form of muscular dystrophy caused by the loss of function of collagen VI, a critical component of the muscle-tendon matrix. Magnetic resonance imaging of UCMD patients’ muscles shows a peculiar rim of abnormal signal at the periphery of each muscle, and a relative sparing of the internal part. The mechanism/s involved in the early fat substitution of muscle fiber at the periphery of muscles remain elusive. We studied a muscle biopsy of the rectus femoris/deep fascia (DF) of a 3-year-old UCMD patient, with a homozygous mutation in the COL6A2 gene. By immunohistochemical …