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Analysis of GCG-repeat size in exon 1 of the PABPN1 gene by PCR and denaturing PAA gel electrophoresis as described previously showing heterozygosity for a (GCG)10 expansion in the index patient (lane 5, arrow). Lanes 1, 3, 6, and 9 represent normal homozygous controls for the (GCG)6 allele. Lanes 2, 4, 7 and 8 show heterozygote and non related carriers of (GCG)8, (GCG)9, (GCG)11, and (GCG)12 expansions, respectively.
