MRI in sarcoglycanopathies: a large international cohort study.
Giorgio TascaMauro MonforteJordi Díaz-ManeraGiacomo BriscaClaudio SempliciniAdele D'AmicoFabiana FattoriAnna PichiecchioAngela BerardinelliLorenzo MaggiElio MaccagnanoNicoline LøkkenChiara Marini-BettoloFrancina MunellAngel SanchezNahla AlshaikhNicol C VoermansJahannaz DastgirDmitry VlodavetsJana HaberlováGianmichele MagnanoMaggie C WalterSusana Quijano-RoyRobert-Yves CarlierBaziel G M van EngelenJohn VissingVolker StraubCarsten G BönnemannEugenio MercuriFrancesco MuntoniElena PegoraroEnrico BertiniBjarne UddEnzo RicciClaudio BrunoPublished in: Journal of neurology, neurosurgery, and psychiatry (2017)
Muscle involvement on MRI is consistent in patients with LGMD2C-F and can be helpful in distinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most common differential diagnoses. Our data provide evidence about selective susceptibility or resistance to degeneration of specific muscles when one of the sarcoglycans is deficient, as well as preliminary information about progressive involvement of the different muscles over time.