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

Publication ,  Journal Article
Tsujino, S; Tonin, P; Shanske, S; Nohria, V; Boustany, RM; Lewis, D; Chen, YT; DiMauro, S
Published in: Ann Neurol
March 1994

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.

Duke Scholars

Published In

Ann Neurol

DOI

ISSN

0364-5134

Publication Date

March 1994

Volume

35

Issue

3

Start / End Page

349 / 353

Location

United States

Related Subject Headings

  • RNA Splicing
  • Polymerase Chain Reaction
  • Point Mutation
  • Phosphoglycerate Kinase
  • Neurology & Neurosurgery
  • Muscular Diseases
  • Molecular Sequence Data
  • Male
  • Introns
  • Humans
 

Citation

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MLA
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Tsujino, S., Tonin, P., Shanske, S., Nohria, V., Boustany, R. M., Lewis, D., … DiMauro, S. (1994). A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). Ann Neurol, 35(3), 349–353. https://doi.org/10.1002/ana.410350316
Tsujino, S., P. Tonin, S. Shanske, V. Nohria, R. M. Boustany, D. Lewis, Y. T. Chen, and S. DiMauro. “A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).Ann Neurol 35, no. 3 (March 1994): 349–53. https://doi.org/10.1002/ana.410350316.
Tsujino S, Tonin P, Shanske S, Nohria V, Boustany RM, Lewis D, et al. A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). Ann Neurol. 1994 Mar;35(3):349–53.
Tsujino, S., et al. “A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).Ann Neurol, vol. 35, no. 3, Mar. 1994, pp. 349–53. Pubmed, doi:10.1002/ana.410350316.
Tsujino S, Tonin P, Shanske S, Nohria V, Boustany RM, Lewis D, Chen YT, DiMauro S. A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). Ann Neurol. 1994 Mar;35(3):349–353.
Journal cover image

Published In

Ann Neurol

DOI

ISSN

0364-5134

Publication Date

March 1994

Volume

35

Issue

3

Start / End Page

349 / 353

Location

United States

Related Subject Headings

  • RNA Splicing
  • Polymerase Chain Reaction
  • Point Mutation
  • Phosphoglycerate Kinase
  • Neurology & Neurosurgery
  • Muscular Diseases
  • Molecular Sequence Data
  • Male
  • Introns
  • Humans