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

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 ski...

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