Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

@article{Gundesli2010MutationIE,
  title={Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.},
  author={Hulya Gundesli and Beril Talim and Petek Korkusuz and Burcu Balci-Hayta and Sebahattin Çirak and Nurten Ayse Akarsu and Haluk Topaloğlu and Pervin Dinçer},
  journal={American journal of human genetics},
  year={2010},
  volume={87 6},
  pages={834-41}
}
Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of inherited muscular disorders manifesting symmetric, proximal, and slowly progressive muscle weakness. Using Affymetrix 250K SNP Array genotyping and homozygosity mapping, we mapped an autosomal-recessive LGMD phenotype to the telomeric portion of chromosome 8q in a consanguineous Turkish family with three affected individuals. DNA sequence analysis of PLEC identified a homozygous c.1_9del mutation containing an… CONTINUE READING

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