Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
Sara BortolaniMarco SavareseGaetano VattemiSilvia BonannoYuri Matteo FalzoneAlessia PuglieseGuido PrimianoCristina SancriccaDiego LopergoloGiulia GrecoChiara GemelliSabrina RavagliaRoberta P BencivengaDaniele VelardoFrancesca MagriMaria L ValentinoMarta CheliEleonora TorchiaMatteo LucchiniAntonio PetrucciGiulia RicciMatteo GaribaldiGuja AstreaAnna RubegniCorrado I AngeliniAlessandra AriattiFilippo M SantorelliAlessandra RuggieriGiovanni AntoniniGabriele SicilianoMassimiliano MirabellaMassimiliano MirabellaRocco LiguoriGiacomo P ComiLucia RuggieroMarina GrandisRoberto MassaAlessandro MalandriniSerenella ServideiTiziana E MonginiCarmelo RodolicoAntonio ToscanoPrevitali Stefano CarloPaola ToninJordi Diaz-ManeraMauro MonforteEnzo RicciLorenzo MaggiGiorgio TascaPublished in: Neurology (2024)
The Italian cohort of patients with MFM and DM recapitulates the phenotypic heterogeneity and the partial overlap between the 2 groups. However, in relative contrast to the encountered phenotypic variability, only 5 genes accounted for most of the molecular diagnoses. Specific genetic entities are associated with significantly increased risk of developing cardiorespiratory complications or loss of ambulation, which has relevant prognostic implications.