Beschreibung:
<jats:title>Abstract</jats:title><jats:p>We report on a Spanish family with myophosphorylase (EC 2.4.1.1) deficiency (McArdle's disease). The proband and his symptomatic sister were compound heterozygous for two novel mutations: a T‐to‐G transversion in exon 14 (c1722 T>G) that changes a tyrosine to a stop codon (Y573X), and a G‐to‐A transition in exon 15 (c1827 G>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. Muscle Nerve 28: 380–382, 2003</jats:p>