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Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events

Nature Geneticsvolume 4pages165169 (1993) | Download Citation



A gene responsible for facioscapulohumeral muscular dystrophy (FSHD) has been linked to polymorphisms on chromosome 4q35. Multipoint linkage analyses have placed this gene distal to all reported genetic markers on the chromosome. By using as a probe a clone isolated from a cosmid containing sequences related to a homeobox domain, de novo DNA rearrangements were reported in sporadic and familial cases of FSHD. Linkage analysis of an EcoRI polymorphism detected by this clone in twenty–four multigenerational FSHD families revealed recombinants between this marker and the disease with a recombination fraction of 0.05. Two families with apparent germline mosaicism were also identified.

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Author information


  1. Collaborative Research, Inc., Waltham, Massachusetts, 02154, USA

    • B. Weiffenbach
    • , J. Dubois
    •  & S. Olandt
  2. Department of Neurology, University of Rochester, Rochester, New York, 14642, USA

    • D. Storvick
    • , R. Tawil
    •  & R.C. Griggs
  3. University of California, San Diego, La Jolla, California, 92093, USA

    • S.J. Jacobsen
  4. Department of Medicine, Duke University, Durham, North Carolina, 27710, USA

    • J. Gilbert
    •  & M. Pericak-Vance
  5. MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands

    • C. Wijmenga
    •  & R.R. Frants
  6. Department of Neurology, Ohio State University, Columbus, Ohio, 43210, USA

    • J.R. Mendell
  7. Department of Biological Chemistry, University of California, Irvine, California, 92717, USA

    • S. Winokur
    •  & M.R. Altherr
  8. Center for Human Genome Studies, LANL, Los Alamos, New Mexico, 87545, USA

    • M.R. Altherr
  9. Department of Neuroscience, University of California, San Diego, La Jolla, California, 92093, USA

    • P. Schultz


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