×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
GeneticVariation
BEFREE
A novel DMD splicing mutation found in a family responsible for X-linked dilated cardiomyopathy with hyper-CKemia.
29901616 2018
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.
29581631 2017
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China.
28318817 2017
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
Do we need 3D tube current modulation information for accurate organ dosimetry in chest CT? Protocols dose comparisons.
28526893 2017
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
27708273 2017
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.
28100912 2017
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
27750387 2017
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
27593222 2017
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
28859693 2017
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
GeneticVariation
CLINVAR
A case report with the peculiar concomitance of 2 different genetic syndromes.
27930565 2016
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
GeneticVariation
CLINVAR
Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.
25900853 2016
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.
27515321 2016
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.
27425820 2016
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
[Mutation screening of 433 families with Duchenne/Becker muscular dystrophy].
27122458 2016
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
[c.2381-3T>C mutation of DMD gene: a rare SNP without significant pathogenicity].
25636106 2015
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
GeneticVariation
BEFREE
We describe a previously healthy 16-year-old boy who presented with palpitations progressing to heart failure who was ultimately found to have a novel duplication of exons 13-16 in the dystrophin gene resulting in diagnosis of X-linked dilated cardiomyopathy .
26294044 2015
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
25972034 2015
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
25612904 2015
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study.
23756440 2014
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
GeneticVariation
UNIPROT
Consistently, XLDCM patients have decreased levels of dystrophin in cardiac muscle.
25340340 2014
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
Dystrophin levels and clinical severity in Becker muscular dystrophy patients.
24292997 2014
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
CausalMutation
CLINVAR
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
25007885 2014
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
GeneticVariation
CLINVAR
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
25007885 2014
×
Entrez Id: 1756
Gene Symbol: DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
0.800
Biomarker
BEFREE
Decrease in stability and increase in unfolding decrease the net population of dystrophin molecules available for function, which might trigger XLDCM .
25340340 2014