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

Publication ,  Journal Article
Ben Othmane, K; Ben Hamida, M; Pericak-Vance, MA; Ben Hamida, C; Blel, S; Carter, SC; Bowcock, AM; Petruhkin, K; Gilliam, TC; Roses, AD
Published in: Nat Genet
December 1992
Published version (DOI) Link to item

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 theta = 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.

Duke Scholars

Margaret Ann Pericak-Vance
Author Margaret Ann Pericak-Vance Medicine, Hematology

Published In

Nat Genet

DOI

10.1038/ng1292-315

ISSN

1061-4036

Publication Date

December 1992

Volume

2

Issue

4

Start / End Page

315 / 317

Location

United States

Related Subject Headings

  • Tunisia
  • Polymorphism, Genetic
  • Phenotype
  • Pedigree
  • Muscular Dystrophies
  • Male
  • Humans
  • Genetic Markers
  • Genetic Linkage
  • Genes, Recessive
 

Citation

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MLA
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Ben Othmane, K., Ben Hamida, M., Pericak-Vance, M. A., Ben Hamida, C., Blel, S., Carter, S. C., … Roses, A. D. (1992). Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet, 2(4), 315–317. https://doi.org/10.1038/ng1292-315
Ben Othmane, K., M. Ben Hamida, M. A. Pericak-Vance, C. Ben Hamida, S. Blel, S. C. Carter, A. M. Bowcock, K. Petruhkin, T. C. Gilliam, and A. D. Roses. “Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.” Nat Genet 2, no. 4 (December 1992): 315–17. https://doi.org/10.1038/ng1292-315.
Ben Othmane K, Ben Hamida M, Pericak-Vance MA, Ben Hamida C, Blel S, Carter SC, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet. 1992 Dec;2(4):315–7.
Ben Othmane, K., et al. “Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.” Nat Genet, vol. 2, no. 4, Dec. 1992, pp. 315–17. Pubmed, doi:10.1038/ng1292-315.
Ben Othmane K, Ben Hamida M, Pericak-Vance MA, Ben Hamida C, Blel S, Carter SC, Bowcock AM, Petruhkin K, Gilliam TC, Roses AD. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet. 1992 Dec;2(4):315–317.

Published In

Nat Genet

DOI

10.1038/ng1292-315

ISSN

1061-4036

Publication Date

December 1992

Volume

2

Issue

4

Start / End Page

315 / 317

Location

United States

Related Subject Headings

  • Tunisia
  • Polymorphism, Genetic
  • Phenotype
  • Pedigree
  • Muscular Dystrophies
  • Male
  • Humans
  • Genetic Markers
  • Genetic Linkage
  • Genes, Recessive