A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).

Journal Article (Journal Article)

We report on a 12-year-old boy with the myopathic form of phosphoglycerate kinase (PGK) deficiency, and unique kinetic and physical characteristics of the mutant enzyme (PGK North Carolina). A G-to-T substitution at the 5' end of intron 4 was identified in the PGK gene of this patient. The mutation destroys the consensus sequence GT at the 5' splice junction of the intron. Activation of a cryptic splice site within intron 4 causes the insertion into the transcript of a 30-bp fragment at the 5' end of intron 4. This insertion results in ten additional amino acids within the "nose" of the PGK molecule, but does not generate a frameshift or a premature stop codon.

Full Text

Duke Authors

Cited Authors

  • Tsujino, S; Tonin, P; Shanske, S; Nohria, V; Boustany, RM; Lewis, D; Chen, YT; DiMauro, S

Published Date

  • March 1994

Published In

Volume / Issue

  • 35 / 3

Start / End Page

  • 349 - 353

PubMed ID

  • 8122886

International Standard Serial Number (ISSN)

  • 0364-5134

Digital Object Identifier (DOI)

  • 10.1002/ana.410350316


  • eng

Conference Location

  • United States