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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 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...

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Publisher copy:
10.1016/j.nmd.2011.06.003

Authors


Robinson, DO More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Mansfield, D More by this author
Hildebrand, GD More by this author
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Journal:
Neuromuscular disorders : NMD
Volume:
21
Issue:
11
Pages:
809-811
Publication date:
2011-11-05
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
URN:
uuid:c5f330f7-e686-4926-a22f-02aa02db185e
Source identifiers:
241001
Local pid:
pubs:241001

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