Advertisement

Congenital Myofibrillar Myopathy Type 2

  • Corrado Angelini
Chapter

Abstract

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.

Keywords

Myofibrillar myopathy Cytoplasmic bodies Alpha-B-crystallin Cardiomyopathy 

References

  1. 1.
    Nakano S, Engel AG, Waclawik AJ, Emslie-Smith AM, Busis NA. Myofibrillar myopathy with abnormal foci of desmin positivity. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol. 1996;55:549–62.CrossRefPubMedGoogle Scholar
  2. 2.
    Selcen D. Myofibrillar myopathies. Neuromuscul Disord. 2011;21:161–71.CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Fardeau M, Godet-Guillain J, Tome FM, et al. Une nouvelle affection musculaire familiale, definie par l’accumulation intra-sarco-plasmique d’un materiel granulo-filamentaire dense en microscopie electronique. Rev Neurol. 1978;134:411–25.PubMedGoogle Scholar
  4. 4.
    Selcen D, Engel AG. Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations. Ann Neurol. 2003;54:804–10.CrossRefPubMedGoogle Scholar
  5. 5.
    Vicart P, Caron A, Guicheney P, et al. A missense mutation in the alpha-B-crystallin chaperone gene causes a desmin-related myopathy. Nature Genet. 1998;20:92–5.CrossRefPubMedGoogle Scholar
  6. 6.
    Sacconi S, Feasson L, Antoine JC, et al. A novel CRYAB mutation resulting in multisystemic disease. Neuromuscul Disord. 2012;22:66–72.CrossRefPubMedGoogle Scholar
  7. 7.
    Del Bigio MR, Chudley AE, Sarnat HB, et al. Infantile muscular dystrophy in Canadian aboriginals is an aB-crystallinopathy. Ann Neurol. 2011;69:866–71.CrossRefPubMedPubMedCentralGoogle Scholar

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

Personalised recommendations