Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments

  title={Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments},
  author={J. K{\"o}hler and D. R{\"o}hrig and K. D. Bathke and M. Koch},
  journal={Clinical Genetics},
Probe p13E‐11 (locus D4F104S1) detects two highly homologous polymorphic loci on chromosomes 4q35 and 10q26. Previous reports in the literature have described a correlation of shortened 4q35‐specific fragments and facioscapulohumeral muscular dystrophy (FSHD1). We have identified 30 FSHD1 families (46 patients) carrying one short 4q35 and one short 10q26 fragment. The clinical data of these patients were compared with those of 47 families (131 patients) showing a single short 4q35 fragment, in… Expand
15 Citations
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