Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q

Kamel Ben Othmane, Mongi Ben Hamida, Margaret A. Pericak-Vance, Christiane Ben Hamida, Samir Blel, Susan C. Carter, Anne M. Bowcock, Konstantin Petruhkin, T. Conrad Gilliam, Allen D. Roses, Faycal Hentati, Jeffery M. Vance

Research output: Contribution to journalArticle

163 Scopus citations

Abstract

Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbred DLMD families from Tunisia were analysed for chromosomal linkage using 135 polymorphic microsatellite markers. A significant lod score of z = 9.15 at θ̂ = 0.03 was found with the 13q12 locus D13S115. Two additional 13q12 markers, D13S143 and D13S120, also gave significant lod scores. Therefore, the primary DLMD defect gene lies in the pericentrometric region of chromosome 13q.

Original languageEnglish (US)
Pages (from-to)315-317
Number of pages3
JournalNature genetics
Volume2
Issue number4
DOIs
StatePublished - Dec 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Othmane, K. B., Hamida, M. B., Pericak-Vance, M. A., Hamida, C. B., Blel, S., Carter, S. C., Bowcock, A. M., Petruhkin, K., Gilliam, T. C., Roses, A. D., Hentati, F., & Vance, J. M. (1992). Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nature genetics, 2(4), 315-317. https://doi.org/10.1038/ng1292-315