|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is linked to mutations in the gene encoding poly(A)-binding protein nuclear 1 (PABPN1).
|
28303574 |
2017 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
|
15725589 |
2005 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Ten subjects with OPMD (6 symptomatic and 4 asymptomatic) within the Taiwanese family carried a novel mutation in the PABPN1 gene.
|
19101703 |
2009 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.
|
15645184 |
2005 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Detailed family history and clinical assessment of the OPMD patient were followed by mutation analysis of the PABPN1 gene by direct DNA sequencing and by our newly developed method, fluorescent PABPN1 polymerase chain reaction (PCR) product (flPPP) method.
|
16481821 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
OPMD is particularly frequent among French Canadians (FCs) and Uzbek Jews (UJs), who carry a same size, (GCN)13, PABPN1 mutation.
|
19704078 |
2009 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the polyadenylate binding protein nuclear 1 (PABPN1) gene have been found to cause OPMD.
|
17138075 |
2007 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular dystrophy that results from small expansions of a polyalanine tract in the PABPN1 gene.
|
12944420 |
2003 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-recessive OPMD with a homozygous (GCG)7 expansion of PABPN1 has only been described in two Canadian patients, who showed a comparably mild phenotype, suggesting that it is less severe than the dominant form.
|
17206657 |
2007 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To answer this question, we examined five patients with the clinical characteristics of oculopharyngodistal myopathy for GCG expansion in poly(A)-binding protein nuclear 1 gene (previously called poly(A)-binding protein 2), the causative gene defect for oculopharyngeal muscular dystrophy.
|
11595511 |
2001 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Short GCG repeat expansions in the PABP2 gene were recently shown to cause oculopharyngeal muscular dystrophy (OPMD) in French-Canadian and Italian pedigrees.
|
11150975 |
2001 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, autosomal dominant disease caused by the abnormal expansion of a polyalanine tract within the coding region of poly(A) binding protein nuclear 1 (PABPN1).
|
16530457 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The linkage region has been refined to a 24 cM region between D14S283 and D14S49 and mutations have been excluded in the PABP2 gene for oculopharyngeal muscular dystrophy which lies within this region.
|
12062252 |
2002 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a 65-year-old man with a 15-year history of oculopharyngeal muscular dystrophy (OPMD) harboring a (GCG)11 mutation of the poly(A)-binding protein 2 (PABP2) gene.
|
11754191 |
2002 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the PABPN1 in OPMD provokes premature senescence in dividing myoblasts, that may be due to intranuclear toxic aggregates.
|
17005403 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Mutation of the PABPN1 in OPMD provokes premature senescence in dividing myoblasts, that may be due to intranuclear toxic aggregates.
|
17005403 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Our results indicate that the nuclear localization of mutant PABPN1 is crucial to OPMD pathogenesis.
|
16101680 |
2005 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The index patients were homozygotes for both a dominant mutation of the PABPN1 gene, (GCN)13, and a recessive mutation of the NRL gene, p.R31X, on chromosome 14q11.1, leading to early-onset OPMD accompanied by night blindness and reduced visual acuity.
|
27732723 |
2016 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) is due to short elongations of a polyalanine tract in the poly(A) binding protein nuclear 1 (PABPN1) gene.
|
16619122 |
2006 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant OPMD is caused by a (GCG)8-13 repeat expansion in the polyadenylation binding protein 2 (PABP2) gene.
|
11087766 |
2000 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.
|
12673802 |
2003 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It has been 10 years since the identification of the first PABPN1 gene (GCN)(n)/polyalanine mutations responsible for oculopharyngeal muscular dystrophy (OPMD).
|
19080757 |
2009 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD).
|
21647273 |
2011 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The results of this study suggest that OPMD in the Mexican population is mostly due to (GCG)(11) or (GCG)(9) PABPN1 expanded alleles arising from two independent founder effect mutations.
|
18577654 |
2008 |
|
Muscular Dystrophy, Oculopharyngeal
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
|
9462747 |
1998 |