• Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9 

      Murphy, Lindsay B.; Schreiber-Katz, Olivia; Rafferty, Karen; Robertson, Agata; Topf, Ana; Willis, Tracey A.; Heidemann, Marcel; Thiele, Simone; Bindoff, Laurence; Laurent, Jean-Pierre; Lochmüller, Hanns; Mathews, Katherine; Mitchell, Claudia; Stevenson, John Herbert; Vissing, John; Woods, Lacey; Walter, Maggie C.; Straub, Volker (Journal article; Peer reviewed, 2020-04)
      Objective The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin‐Related Protein (FKRP) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital ...