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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Localization of the schwartz-jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping
Human Molecular Genetics, Volume 4, No. 9, Year 1995
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Description
Schwartz-Jampel syndrome (SJS, MIM 255800), also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia, skeletal abnormalities and facial dysmorphism. Using homozygosity mapping, we localized the SJS locus to chromosome 1p34-p36. 1 in a 8 cM interval flanked by markers D1S199 and D1S234. Families of different ethnic backgrounds (Tunisia and South Africa) showed genetic linkage to the same locus. Morever, one Algerian family also demonstrated evidence of genetic linkage to 1p34-p36.1. Taken altogether, our results suggest genetic homogeneity, at least in the group of families analyzed. © 1995 Oxford University Press.
Authors & Co-Authors
Nicole, Sophie
Unknown Affiliation
Hamida, Christiane Ben
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Beighton, Peter H.
South Africa, Cape Town
University of Cape Town
Bakouri, Salim
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Belal, Samir
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Roméro, Norma Beatriz
France, Paris
Hôpital Robert-debré Ap-hp
Viljoen, Dennis Lucy
South Africa, Cape Town
University of Cape Town
Ponsot, Gérard
France, Paris
Hopital Saint-vincent-de-paul
Sammoud, Azza
Tunisia, Tunis
Hôpital la Rabta
Weissenbach, Jean S.
France, Evry
Généthon
Fardeau, Michael
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Hamida, Mongi Ben
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Fontaine, Bertrand
Unknown Affiliation
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Statistics
Citations: 60
Authors: 14
Affiliations: 8
Identifiers
Doi:
10.1093/hmg/4.9.1633
ISSN:
09646906
Research Areas
Genetics And Genomics
Study Locations
South Africa
Tunisia