|Number of repeats||Counts (alleles)||Percentage|
Overview of repeats
Oculopharyngeal muscular dystrophy (OPMD) is a muscle disease which is caused by short trinucleotide (GCG) expansions in the coding region of PABPN1 gene as described by Brais and colleagues. They showed that normal individuals carry 6 repeats of GCG in the allele, but 2% of the population has also alleles with 7 repeats (Brais et al., 1998).
Affected subjects have 7-13 repeats, however, the pathogenic repeat length usually ranges from 8 to 13 repeats which leads to autosomal dominant disease. It was found that homozygous 7 repeat alleles caused the disease in autosomal recessive manner (Brais et al., 1998).