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

Overview

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.

publication date

  • August 28, 1998

Research

keywords

  • Muscular Diseases
  • Phosphorylase Kinase
  • Point Mutation
  • RNA Splicing

Identity

Scopus Document Identifier

  • 0032575672

Digital Object Identifier (DOI)

  • 10.1006/bbrc.1998.9211

PubMed ID

  • 9731190

Additional Document Info

volume

  • 249

issue

  • 3