A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F

Neuromuscul Disord. 2000 Jun;10(4-5):247-50. doi: 10.1016/s0960-8966(00)00100-0.

Abstract

We present the first Turkish family with delta-sarcoglycanopathy (LGMD2F). A novel truncating mutation (E93X) in exon 3 was identified in the gene. The index case showed a severe course and there was no cardiac involvement. LGMD2F seems to be rare in our population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cardiomyopathies / genetics
  • Cardiomyopathies / pathology
  • Codon, Nonsense / genetics
  • Consanguinity
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis
  • Exons / genetics*
  • Female
  • Genotype
  • Homozygote
  • Humans
  • Membrane Glycoproteins / genetics*
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology*
  • Mutation / genetics
  • Sarcoglycans
  • Turkey

Substances

  • Codon, Nonsense
  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • Sarcoglycans