|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy (DM1), a neuromuscular disease related to DMPK gene mutations, is associated to endocrine disorders and cancer.
|
30760283 |
2019 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder caused by expression of mutant myotonin-protein kinase (<i>DMPK</i>) transcripts containing expanded CUG repeats.
|
29592894 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy 1 (DM1) is a multisystemic neuromuscular disease caused by a dominantly inherited 'CTG' repeat expansion in the gene encoding DM Protein Kinase (DMPK).
|
30086404 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a multisystem neuromuscular disease caused by a CTG triplet expansion in the 3'-untranslated region (3'-UTR) of DMPK gene.
|
27991661 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in the 3'-untranslated region (UTR) of DMPK.
|
28886202 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in 3'UTR of DMPK gene.
|
26708183 |
2015 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Instability and expansion of the DMPK CTG repeat cause myotonic dystrophy type 1 (DM1), the most common adult-onset neuromuscular disorder.
|
25684273 |
2015 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A CTG repeat element normally resides in the 3' untranslated region of the dystrophia myotonica-protein kinase (DMPK) gene, but when expanded it is the genetic lesion of myotonic dystrophy type 1 (DM1), a hereditary neuromuscular disease.
|
23308382 |
2013 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disorder caused by a CTG expansion mutation located in the 3' untranslated region of the DMPK (DM1 protein kinase) gene.
|
21259315 |
2011 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This inherited neuromuscular disorder is caused by a (CTG)n >50 expansion in the 3' non-coding region of the dystrophia myotonica-protein kinase (DMPK) gene.
|
21763392 |
2011 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy (DM) is a multisystemic neuromuscular disorder caused by a dynamic mutation of (CTG) trinucleotide repeats in the 3' untranslated region of the myotonic dystrophy protein kinase gene (DMPK).
|
20228473 |
2010 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a dominant neuromuscular disorder caused by the expansion of trinucleotide CTG repeats in the 3'-untranslated region (3'-UTR) of the DMPK gene.
|
17549748 |
2008 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disorder associated with an expansion of CTG trinucleotide repeats in the 3'-untranslated region of the myotonic dystrophy protein kinase (DMPK) gene.
|
17728322 |
2007 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG expansion in the 3' UTR of the dystrophia myotonica protein kinase (DMPK) gene.
|
16723374 |
2006 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disorder associated with a (CUG)n expansion in the 3'-untranslated region of the DMPK (DM1 protein kinase) gene.
|
16027111 |
2005 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy (DM), an autosomal dominant neuromuscular disease, is associated with expansion of a polymorphic (CTG)n repeat in the 3'-untranslated region of the DM protein kinase (DMPK) gene.
|
11592825 |
2001 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy (DM1) is an autosomal dominant neuromuscular disorder associated with a (CTG)(n) expansion in the 3'-untranslated region of the DM1 protein kinase (DMPK) gene.
|
10970838 |
2000 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy (DM) is a neuromuscular disorder associated with CTG triplet repeat expansion in the myotonin protein kinase gene ( DMPK ).
|
9887331 |
1999 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease that is associated with a (CTG)n repeat expansion in the 3'-untranslated region of the myotonin protein kinase (Mt-PK) gene.
|
8948631 |
1996 |