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A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.

Authors
  • Bruno, C
  • Manfredi, G
  • Andreu, A L
  • Shanske, S
  • Krishna, S
  • Ilse, W K
  • DiMauro, S
Type
Published Article
Journal
Biochemical and biophysical research communications
Publication Date
Aug 28, 1998
Volume
249
Issue
3
Pages
648–651
Identifiers
PMID: 9731190
Source
Medline
License
Unknown

Abstract

In a 28-year-old man with myopathy and phosphorylase kinase (PhK) deficiency, we found a G-to-C substitution at the 5' end of an intron in the muscle-specific alpha-subunit gene. The mutation destroys the high-consensus GT sequences at the 5' splice junction of the intron, which causes skipping of the preceding exon. This is the second molecular genetic defect identified in the myopathic variant of PhK deficiency.

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