|
Muscular Dystrophy, Duchenne
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Here we present evidence for a 4.8kb transcript from the DMD locus which is ubiquitously expressed but is particularly abundant in Schwannoma cells where dystrophin could not be detected.
|
1301145 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
The implications of these findings in DMD carrier detection and possible dystrophin function are discussed.
|
1355417 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Histological examination of skeletal muscle revealed myopathic changes and immunostaining with anti-dystrophin antiserum demonstrated a mosaic pattern which are compatible with the observations in carriers of DMD.
|
1370218 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
This mRNA differs in coding content and tissue distribution from the known muscle type and brain type 14 kb DMD mRNAs which code for dystrophin.
|
1377655 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have investigated the possibility that a deficiency of a dystrophin-associated protein could be the cause of severe childhood autosomal recessive muscular dystrophy (SCARMD) with a DMD-like phenotype.
|
1406935 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have developed a fast and accurate PCR-based linkage and carrier detection protocol for families of Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) patients with or without detectable deletions of the dystrophin gene, using fluorescent PCR products analyzed on an automated sequencer.
|
1415217 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In about 65% of the cases of Duchenne muscular dystrophy (DMD) a partial gene deletion or duplication in the dystrophin gene can be detected.
|
1415256 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Results of dystrophin analysis of the muscle biopsy were consistent with a manifesting heterozygote for Duchenne muscular dystrophy.
|
1415326 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
A total of 56 Duchenne muscular dystrophy (DMD) patients and 11 Becker muscular dystrophy (BMD) patients was analyzed by extended "multiplex" amplification of the DMD/BMD gene; deletions were found in 60% of these patients.
|
1427789 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Polymerase chain reaction (PCR) was used to study the presence of gene deletion (the most prominent type of mutations) in some families afflicted by Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD).
|
1459673 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
In the absence of dystrophin in Duchenne muscular dystrophy (DMD) patients, DRP is also present in the sarcolemma.
|
1461283 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For example, the map suggests that the adrenal hypoplasia congenita and glycerol kinase genes are physically close to each other, are within 1-2 Mb of the telomeric end of the Duchenne muscular dystrophy (DMD) gene, and are nearer to the DMD locus than to the more distal marker DXS28 (C7).
|
1463011 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mapping of X chromosome translocation breakpoints in females with Duchenne muscular dystrophy with respect to exons of the dystrophin gene.
|
1483697 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Rapid advances in the molecular genetics of Duchenne muscular dystrophy (DMD) and the discovery and localization of the gene product dystrophin has brought new hope that successful treatment for this disease may not be too far away.
|
1497954 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified a premature chain termination mutation in two brothers with Duchenne muscular dystrophy and correlated the mutation in one of the brothers with immunologic detection of dystrophin in skeletal muscle.
|
1513469 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dystrophin or a "related protein" in Duchenne muscular dystrophy?
|
1519480 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The X-linked gene responsible for Duchenne muscular dystrophy encodes dystrophin, a high-molecular-weight cytoskeletal protein.
|
1528015 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, the relatively large size of the gene and the high frequency of recombination and mutation events within the dystrophin locus continue to pose difficulties in the genetic counselling and prenatal diagnosis of DMD, and render the conclusions of molecular analysis less clear cut.
|
1536162 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
The molecular basis for the disease has been shown to be a lack of dystrophin, the protein product of the Duchenne muscular dystrophy gene.
|
1536178 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) and the allelic milder form of Becker muscular dystrophy (BMD) are caused by mutations of the dystrophin gene on the short arm of the X chromosome.
|
1537352 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
A Duchenne muscular dystrophy patient who displayed near-normal dystrophin staining at the sarcolemma with N-terminal, but not with C-terminal, anti-dystrophin monoclonal antibodies was found to have a frameshift deletion of exons 42 and 43.
|
1539591 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results show that transplanted myoblasts persist and produce dystrophin in muscle fibres of DMD patients.
|
1557125 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For comparison to the known long-range restriction map of the DMD gene, YAC clones were digested with SfiI and hybridized with DMD cDNA probes.
|
1559698 |
1992 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
A homologue of dystrophin is expressed at the blood vessel membrane of DMD and BMD patients: immunological evidence.
|
1564523 |
1992 |