Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging.
Giulia GiacomucciMauro MonforteJordi Díaz-ManeraKarlien MulRoberto Fernández-TorrónL MaggiC Marini BettoloJulia Rebecka DahlqvistJ HaberlovaPilar CamañoM GrosTommaso TartaglioneL CristianoSimonetta GereviniP CalandraG DeiddaEmiliano GiardinaSabrina SacconiVolker StraubJohn VissingBaziel G M van EngelenEnzo RicciGiorgio TascaPublished in: European journal of neurology (2020)
This multicentre study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD-related disease spectrum.