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The proband and his symptomatic sister were compound heterozygous for two novel mutations: a T\u2010to\u2010G transversion in exon 14 (c1722 T&gt;G) that changes a tyrosine to a stop codon (Y573X), and a G\u2010to\u2010A transition in exon 15 (c1827 G&gt;A) that disrupts the consensus signal at the donor splicing site. These findings further expand knowledge of the genetic bases of muscle glycogen phosphorylase deficiency. 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