Clinical Domain Working Groups

The focus of the MDM Expert panel will be to evaluate genes for their association with an MDM phenotype (progressive, proximal weakness of the hip and shoulder girdle), with an initial focus on the 37 genes outlined in the Straub et al., 2018 (PMID: 30055862) paper published by the 229^th European Neuromuscular Centre (ENMC) International workshop on limb girdle muscular dystrophies. 

Please note, in August 2023 the Muscular Dystrophies and Myopathies GCEP was renamed from Limb Girdle Muscular Dystrophy GCEP.