Chiara Ceolin

Apr 6, 2023 | mdpi.com | Corrado Angelini |Alicia Rodriguez |Vincenzo Nigro |Chiara Ceolin

1. IntroductionMyofibrillar myopathies (MFM) are a rather heterogeneous group of neuromuscular disorders caused by mutations of various genes that cause common myopathological features. First of all is the damage of Z-disks followed by myofibrillar disruption and accumulation of multiple proteins in cytoplasmic bodies [1]. Each gene originates from a mutated protein, which is either an integral part of the Z-disk or might be closely associated with it.