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  • Title: A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.
    Author: Bruno C, Manfredi G, Andreu AL, Shanske S, Krishna S, Ilse WK, DiMauro S.
    Journal: Biochem Biophys Res Commun; 1998 Aug 28; 249(3):648-51. PubMed ID: 9731190.
    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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