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.
- Tsujino, S; Tonin, P; Shanske, S; Nohria, V; Boustany, RM; Lewis, D; Chen, YT; DiMauro, S
- March 1994
Volume / Issue
- 35 / 3
Start / End Page
- 349 - 353
International Standard Serial Number (ISSN)
Digital Object Identifier (DOI)
- United States