|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The Authors considered the relationship between hypogonadism in myotonic dystrophy (MD) and MT-PK gene mutation.
|
8077624 |
1994 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
|
23680132 |
2013 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG repeat in the gene DMPK.
|
21971425 |
2011 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This second form of myotonic dystrophy may help resolve the confusion that remains about how the CTG repeat expansion in the 3' untranslated portion of the myotonin protein kinase gene causes the multisystem involvement of DM.
|
10063831 |
1999 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The mutation responsible for myotonic dystrophy (DM) is an unstable expansion of the CTG repeat within the myotonin protein kinase gene.
|
8290046 |
1994 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To investigate whether unusual allele segregation might explain the dominant negative effect of the expanded allele for myotonic dystrophy on myotonin protein kinase mRNA metabolism, which is suggested to cause the disease, we determined the number of CTG repeats at the DM locus in the nonaffected alleles of 64 DM (dystrophia myotonia) patients.
|
9353981 |
1997 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation.
|
8566943 |
1996 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disease, highly variable and multisystemic, which is caused by the expansion of a CTG repeat located in the 3' untranslated region of the DMPK gene.
|
10480373 |
1999 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy (DM) is an autosomal dominant multisystem disorder associated with expansion of the CTG repeat within the 3' non-coding region of the myotonin protein kinase (MT-PK) gene.
|
8784809 |
1996 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is caused by a CTG repeat expansion located in the 3' UTR of the DMPK gene.
|
31253581 |
2019 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy (DM) is an autosomal dominant genetic disease caused by an unstable CTG repeat sequence in the 3' untranslated region of the myotonin protein kinase gene.
|
7813083 |
1995 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in 3'UTR of DMPK gene.
|
26708183 |
2015 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic Dystrophy type I (DM1) is caused by an abnormal expansion of CTG triplets in the 3' UTR of the dystrophia myotonica protein kinase (DMPK) gene, leading to the aggregation of the mutant transcript in nuclear RNA foci.
|
22156369 |
2012 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1.
|
16193250 |
2005 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 is an autosomal dominant disorder associated with the expansion of a CTG repeat in the 3' untranslated region (UTR) of the DMPK gene.
|
15703191 |
2005 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion within the 3'-untranslated region of the DMPK gene.
|
20051426 |
2010 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In addition, a single haplotype composed of nine alleles within and flanking DMPK over a physical distance of 30 kb has been shown to be in complete linkage disequilibrium with DM.
|
7726160 |
1995 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report on a myotonic dystrophy (DM) family exhibiting instability of normal sized (CTG)n alleles in the DM kinase gene on the non-DM chromosome.
|
9350827 |
1997 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies excluded mutations in the DM type 1 (DM1) gene, but revealed a CCTG repeat expansion in the ZNF9 gene, which is associated with DM2.
|
15704146 |
2005 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A (CTG)nexpansion in the 3'-untranslated region (UTR) of the DM protein kinase gene ( DMPK ) is responsible for causing myotonic dystrophy (DM).
|
9668171 |
1998 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
(CTG)(n) · (CAG)(n) trinucleotide repeat (TNR) expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene causes myotonic dystrophy type 1.
|
23166299 |
2013 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion mutation located in the 3' untranslated portion of the dystrophica myotonin protein kinase gene.
|
16776586 |
2006 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Homozygous myotonic dystrophy with craniosynostosis.
|
18474935 |
2008 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have recently proposed a model where disease pathogenesis may occur at the RNA level in myotonic dystrophy: the mutant DM kinase RNA with the expansion mutation may disrupt cellular RNA metabolism in some general manner, as evidenced by defects in RNA processing of the normal DM kinase gene in heterozygous patients (dominant negative RNA mutation).
|
9120013 |
1997 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is an autosomal dominant inheritable disease associated with an expansion of CTG repeats in the 3' UTR of the DMPK gene.
|
17145685 |
2006 |