|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Point mutations in the dystrophin gene.
|
1549596 |
1992 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of small mutations in the dystrophin coding region.
|
7611292 |
1995 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene.
|
7755293 |
1995 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.
|
7951253 |
1994 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
|
8401582 |
1993 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.
|
9067763 |
1997 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Three novel point mutations in the dystrophin gene in DMD patients.
|
9143930 |
1997 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel point mutations in the dystrophin gene.
|
9298822 |
1997 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.
|
9544849 |
1998 |
|
Dmd-Associated Dilated Cardiomyopathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We speculate that this insertion of an L1 sequence in DMD is responsible for some of the population of Japanese patients with XLDCM.
|
9618170 |
1998 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |
|
Dmd-Associated Dilated Cardiomyopathy
|
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 |