Congenital Myofibrillar Myopathy Type 2

  • Corrado Angelini


The term “myofibrillar myopathy (MFM)” has been introduced to describe a heterogeneous group of chronic muscle disorders characterized by common morphological features of muscle consisting in cytoplasmic bodies and, on electron microscopy, by Z-disc streaming and by intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates [1]. Duygu Selcen [2] has identified a number of different etiologies including alpha-B-crystallin, filamin-C, FHL1, desmin, myotilin, plectin, ZASP, and BAG3.


Myofibrillar myopathy Cytoplasmic bodies Alpha-B-crystallin Cardiomyopathy 


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Copyright information

© Springer International Publishing Switzerland 2018

Authors and Affiliations

  • Corrado Angelini
    • 1
  1. 1.IRCCS Fondazione S.Camillo HospitalUniversità di Padova, Dipartimento di Neuroscienze PadovaVeniceItaly

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