×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
Biomarker
disease
CTD_human
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Point mutations in the dystrophin gene.
1549596
1992
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.
8281150
1993
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
Biomarker
disease
GENOMICS_ENGLAND
A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
8401582
1993
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
X-linked dilated cardiomyopathy . Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin ) gene at the Xp21 locus.
8504498
1993
×
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test.
7668256
1995
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy .
7825571
1995
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
Molecular genetic studies have delineated the gene for BTHS, which maps to distal Xq28, from the gene for so called X linked dilated cardiomyopathy (XLCM), a teenage onset dilated cardiomyopathy, recently mapped to the 5' portion of the dystrophin locus at Xp21.
7616547
1995
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
X-linked dilated cardiomyopathy . Novel mutation of the dystrophin gene.
7755293
1995
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Spectrum of small mutations in the dystrophin coding region.
7611292
1995
×
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
BEFREE
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy .
8789442
1996
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Novel point mutations in the dystrophin gene.
9298822
1997
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
CausalMutation
disease
CLINVAR
Three novel point mutations in the dystrophin gene in DMD patients.
9143930
1997
×
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
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
CausalMutation
disease
CLINVAR
Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis.
9195228
1997
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
The purpose of this study was to analyze the originally described family with XLCM (and other) for dystrophin mutations.
9170407
1997
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
UNIPROT
The purpose of this study was to analyze the originally described family with XLCM (and other) for dystrophin mutations.
9170407
1997
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
GeneticVariation
disease
BEFREE
The only known disease gene is the dystrophin gene causing X-linked dilated cardiomyopathy , but other cytoskeletal proteins, such as adhalin, could be involved.
9891591
1998
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
0.800
AlteredExpression
disease
BEFREE
Our report underlines the complexity of the pathogenic mechanism leading to X-linked dilated cardiomyopathy but suggests that differences in tissue-specific expression of dystrophin mutations may be a common feature in this condition.
9683584
1998
×
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
Characterization of two nonsense mutations in the human dystrophin gene.
10320864
1998