Article
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
Neuromuscular disorders : NMD - 1 Oct 2012
Sarkozy Anna, Deschauer Marcus, Carlier Robert-Yves, Schrank Bertold, Seeger Jürgen, Walter Maggie C, Schoser Benedikt, Reilich Peter, Leturq France, Radunovic Aleksandar, Behin Anthony, Laforet Pascal, Eymard Bruno, Schreiber Herbert, Hicks Debbie, Vaidya Sujit S, Gläser Dieter, Carlier Pierre G, Bushby Kate, Lochmüller Hanns, Straub Volker
Abstract excerpt
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with recessive mutations in the ANO5 gene. We analysed the muscle MRI pattern in a cohort of 25 LGMD2L patients in order to understand the extent and progression of muscle pathology in LGM2L and assess if muscle MRI might help in the diagnostic work-up of these patients. Our results showed a...
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