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Oculopharyngeal muscular dystrophy is a neuromuscular disease usually presenting in the 5th or 6th decades of life with a dominant inheritance pattern. In almost all cases the cause of the disease is the expansion of a DNA repeat sequence containing GCG and GCA codons in exon 1 of the PABPN1 gene from 10 to between 12 and 17 repeats. However one case has been previously reported without the gene expansion but instead with a c.35G>C missense mutation converting a glycine codon to an alanine and resulting in a sequence of 13 contiguous alanine codons, thus mimicking the effect of the common expansion mutation. Here we report two further cases of OPMD caused by the c.35G>C point mutation. Clinical and pedigree data indicate the usual OPMD dominant inheritance pattern.

Original publication

DOI

10.1016/j.nmd.2011.06.003

Type

Journal article

Journal

Neuromuscul Disord

Publication Date

11/2011

Volume

21

Pages

809 - 811

Keywords

Aged, Alanine, DNA Mutational Analysis, Female, Glycine, Humans, Male, Muscle, Skeletal, Muscular Dystrophy, Oculopharyngeal, Point Mutation, Poly(A)-Binding Protein II