Journal article icon

Journal article

Oculopharyngeal muscular dystrophy phenotypic and genotypic studies in a UK population

Abstract:

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. The genetic basis of the condition has been identified recently as a stable trinucleotide repeat expansion in exon 1 of the poly(A) binding protein 2 gene (PABP2), in which (GCG) 6 is the normal repeat length. The prevalence of OPMD is greatest in patients of French-Canadian origin. It is not clear if expansion repeat length is a r...

Expand abstract

Actions


Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
Journal:
Brain More from this journal
Volume:
124
Issue:
3
Pages:
522-526
Publication date:
2001-01-01
ISSN:
0006-8950
Language:
English
Keywords:
Pubs id:
pubs:242376
UUID:
uuid:fe7ced02-2e8b-471a-8744-760555702a59
Local pid:
pubs:242376
Source identifiers:
242376
Deposit date:
2012-12-19

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP