Limb-Girdle Muscular Dystrophy Type 2H

  • Corrado Angelini
Chapter
First Online:

Abstract

In 1973, Jerusalem et al. [1] described two Hutterite brothers affected with a congenital muscle disorder called sarcotubular myopathy, because of its unique structural features consisting in small vacuoles due to focal dilatation of the sarcotubular reticulum. One form of autosomal recessive LGMD has been identified to recur among the Manitoba Hutterite population in Canada [2], and a new locus for the disease was identified in these families [3]. Hutterites are an Anabaptist sect who migrated from Germany to North America in the 1870s and kept religious and cultural isolation and consanguineous marriages.

Keywords

Limb-girdle muscular dystrophy Sarcotubular myopathy Hutterites TRIM32 
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References

  1. 1.
    Jerusalem F, Engel AG, Gomez MR. Sarcotubular myopathy. A newly recognized, benign, congenital, familial muscle disease. Neurology. 1973;23:897–906.CrossRefPubMedGoogle Scholar
  2. 2.
    Shokeir MH, Kobrinsky NL. Autosomal recessive muscular dystrophy in Manitoba Hutterites. Clin Genet. 1976;9:197–202.CrossRefPubMedGoogle Scholar
  3. 3.
    Weiler T, Greenberg CR, Zelinski T, et al. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet. 1998;63:140–7.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Frosk P, Weiler T, Nylen E, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet. 2002;70:663–72.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Frosk P, Del Bigio MR, Wrogemann K, Greenberg CR. Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I. Eur J Hum Genet. 2005;13:978–82.CrossRefPubMedGoogle Scholar
  6. 6.
    Schoser BGH, Frosk P, Engel AG, Klutzny U, Lochmuller H, Wrogemann K. Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol. 2005;57:591–5.CrossRefPubMedGoogle Scholar
  7. 7.
    Saccone V, Palmieri M, Passamano L, Piluso G, Meroni G, Politano L, Nigro V. Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. Hum Mutat. 2008;29:240–7.CrossRefPubMedGoogle 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

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