Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G > C; p.Gly12Ala point mutation
Abstract 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 PABPN...
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Veröffentlicht in: | Neuromuscular disorders : NMD 2011-11, Vol.21 (11), p.809-811 |
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Sprache: | eng |
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Zusammenfassung: | Abstract 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. |
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ISSN: | 0960-8966 1873-2364 |
DOI: | 10.1016/j.nmd.2011.06.003 |