×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.
24349052
2013
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
19937601
2009
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy.
12354438
2002
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Dystrophin point mutation screening using a multiplexed protein truncation test.
10464635
1997
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcripts.
8840119
1996
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
UNIPROT
Consistently, XLDCM patients have decreased levels of dystrophin in cardiac muscle.
25340340
2014
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.
9067763
1997
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
Biomarker
disease
BEFREE
Dystrophin has been identified as the gene responsible for X-linked dilated cardiomyopathy and this protein, which is also responsible for Duchenne and Becker muscular dystrophy, plays an important role in myocyte and cardiomyocyte function.
9484605
1998
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
14695533
2004
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.
19530190
2009
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy .
10832829
2000
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
17952667
2007
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
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
0.800
GeneticVariation
disease
BEFREE
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy .
15094399
2004
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Manifesting pediatric carrier of isolated dystrophinopathy with initial presentation of myalgia and persistent hyperCKemia.
23276443
2012
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation.
11257468
2001
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC ).
19937601
2009
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
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
0.800
CausalMutation
disease
CLINVAR
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.
11039581
2000
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
Biomarker
disease
BEFREE
Cardiomyopathy is a leading cause of morbidity and mortality in both patients and carriers of DMD , BMD and X-linked dilated cardiomyopathy .
16987891
2006
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.
27425820
2016
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
X-linked dilated cardiomyopathy (XLCM ) was first described in 1987 and associated with dystrophin gene (DMD ) mutations a decade later in one of the original two families.
17899313
2007
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.
19230662
2009
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
[Detection of new mutations in the dystrophin gene by denaturing high-performance liquid chromatography].
17880784
2007
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
7951253
1994