Article
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Annals of clinical and translational neurology - 1 May 2020
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
Abstract excerpt
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 muscular dystrophies MDC1C, Muscle-Eye-Brain Disease and Walker-Warburg Syndrome. The registry seeks to further understand the natural history and prevalence of FKRP-related conditions; aid the...
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