Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy).

@article{Vorwerk1999AlternativeSO,
  title={Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy).},
  author={Peter Vorwerk and Claus T Christoffersen and J\orn M{\"u}ller and Helle S Vestergaard and Oluf Pedersen and Pierre De Meyts},
  journal={Hormone research},
  year={1999},
  volume={52 5},
  pages={211-20}
}
The insulin receptor (IR) in two brothers with a rare syndrome of congenital muscle fiber type disproportion myopathy (CFTDM) associated with diabetes and severe insulin resistance was studied. By direct sequencing of Epstein-Barr virus-transformed lymphocytes both patients were found to be compound heterozygotes for mutations in the IR gene. The maternal allele was alternatively spliced in exon 17 due to a point mutation in the -1 donor splice site of the exon. The abnormal skipping of exon 17… CONTINUE READING