Neuromuscular Disorders
Volume 17, Issue 11 , Pages 950-954 , December 2007

Dysferlinopathy in the Jews of the Caucasus: A frequent mutation in the dysferlin gene

  • E. Leshinsky-Silver

      Affiliations

    • Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel
    • Genetics Institute, Wolfson Medical Center, Holon, Israel
    • Corresponding Author InformationCorresponding author. Address: Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel. Tel.: +11 972 3 5028692; fax: +11 972 3 5028543.
    • ,
  • Z. Argov

      Affiliations

    • Department of Neurology, Hadassah Medical Center, Jerusalem, Israel
    • ,
  • L. Rozenboim

      Affiliations

    • Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel
    • ,
  • S. Cohen

      Affiliations

    • Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel
    • ,
  • Z. Tzofi

      Affiliations

    • Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel
    • ,
  • Y. Cohen

      Affiliations

    • Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel
    • ,
  • Y. Wirguin

      Affiliations

    • Department of Neurology, Soroka Medical Center, Beer Sheva, Israel
    • ,
  • R. Dabby

      Affiliations

    • Department of Neurology, Wolfson Medical Center, Holon, Israel
    • ,
  • D. Lev

      Affiliations

    • Genetics Institute, Wolfson Medical Center, Holon, Israel
    • ,
  • M. Sadeh

      Affiliations

    • Department of Neurology, Wolfson Medical Center, Holon, Israel

Received 15 May 2007 ,Revised 17 July 2007 ,Accepted 25 July 2007.

References 

  1. Bashir R, Britton S, Strachan T, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet. 1998;20:37–42
  2. Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998;20:31–36
  3. Bejaoui K, Hirabayashi K, Hentati F, et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12–14. Neurology. 1995;45:768–772
  4. Aoki M, Liu J, Richard I, et al. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology. 2001;57:271–278
  5. Anderson LV, Davison K, Moss JA, et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet. 1999;8:855–861
  6. Bansal D, Miyake K, Voge SS, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature. 2003;423:168–172
  7. Lennon NJ, Kho A, Bacskai BJ, et al. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem. 2003;278:50466–50473
  8. Argov Z, Sadeh M, Mazor K, et al. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clin Genet Features. Brain. 2000;123:1229–1237
  9. Cagliania R, Fortunatob F, Giordaa R, et al. Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Neuromuscular Disord. 2003;13:788–795
  10. Vilchez JJ, Gallano P, Gallardo E, et al. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol. 2005;62:1256–1259
  11. Nguyen K, Bassez G, Bernard R, et al. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical Dysferlinopathy. Human Mutat. 2005;26:165
  12. Bram Ch. The language of the Mountain Jews from the Caucasus: language preservation and socio-linguistic dilemmas before and after the migration to Israel, Irano-Judaica, Ben-Zvi Institute, Jerusalem, 2006.
  13. Ellenbogen-Frankovich S, Noam G. The absorption of immigrant children and youth from the Caucasus: survey Findings. JDC-Brookdale Institute of Gerontology and Human Development, 1998; RR-328-98. www.jdc.org.il/brookdal.
  14. King J. The absorption of immigrants from the Caucasus in the 1990s. JDC-Brookdale Institute of Gerontology and Human Development 1998; RR-326-98. www.jdc.org.il/brookdale.
  15. Bram Ch. Multiethnic networks as a way of life: the case of Caucasian Jews, Simon Dubnow Institute Yearbook V, 2006.

PII: S0960-8966(07)00682-7

doi: 10.1016/j.nmd.2007.07.010

Neuromuscular Disorders
Volume 17, Issue 11 , Pages 950-954 , December 2007

Article Tools

* Image Usage & Resolution