Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval

@article{Fontaine1996RecessiveSS,
  title={Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval},
  author={Bertrand Fontaine and Sophie Nicole and Haluk Topaloğlu and Christiane Ben Hamida and Peter Beighton and Frank Spaans and Jos{\'e} Mar{\'i}a Cant{\'u} and Salim Bakouri and N. Garc{\'i}a Romero and Kenneth Ricker and Patricio Barros-N{\'u}{\~n}ez and G{\'e}rard Ponsot and M. Mehdi Ben Hamida and Jean Weissenbach and Fayçal Hentati and Frank Lehmann-Horn},
  journal={Human Genetics},
  year={1996},
  volume={98},
  pages={380-385}
}
Schwartz-Jampel syndrome (SJS), or chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia resulting in a particular, recognizable facies and osteoarticular abnormalities. Some of us have recently shown genetic linkage of SJS to a locus on 1p34–p36.1 in five families. Here, we show by homozygosity mapping and segregation analysis that eight new families are most likely linked to the SJS locus on chromosome 1, confirming the localization of SJS to… CONTINUE READING
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