|
Muscular Dystrophy, Duchenne
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A DMD locus at Xp21 could be damaged by the translocation, giving rise to Duchenne muscular dystrophy.
|
7334502 |
1981 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data thus provide evidence in favour of the whole family approach in DMD genetic counselling as opposed to counselling of isolated DMD relatives.
|
7333021 |
1981 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Seventy families with Duchenne muscular dystrophy (DMD) known to the Institute of Child Health fall into three categories with respect to potential linkage analysis with the X chromosome DNA markers RC8 and L1.28 that bridge the DMD gene.
|
6585184 |
1984 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes.
|
6729462 |
1984 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
MGD |
X chromosome-linked muscular dystrophy (mdx) in the mouse.
|
6583703 |
1984 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The breakpoints of some deletions are delineated within the DXS164 locus, and it is evident that the deletions at the DMD locus are frequent and extremely large.
|
3014348 |
1986 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The similarities between this patient and previously reported females with Duchenne muscular dystrophy are discussed with reference to de novo translocations with a breakpoint at Xp21 and the risk of DMD in such females.
|
3742857 |
1986 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nine unrelated pedigrees in which Duchenne muscular dystrophy (DMD) was not present in more than one sibship were studied, using 6 DNA polymorphisms closely linked to the DMD gene.
|
2878873 |
1986 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A sequence derived from the X-chromosomal portion of the clone detects a restriction fragment length polymorphism (RFLP) which is closely linked to the DMD gene and uncovers chromosomal deletions in some male DMD patients.
|
3001530 |
1986 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
The following order of loci is proposed: centromere-OTC-cX5 (DXS148)-754 (DXS84)-PERT87 (DXS164)/DMD-telomere.
|
2877936 |
1986 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
A cloned DNA segment, DXS164 (or pERT87), has been shown to detect deletions in the DNA of unrelated DMD and BMD males.
|
3773991 |
1986 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
A girl with full expression of DMD due to a 46 XY karyotype is reported, and other clinical conditions in which expression of the DMD gene occurs in females are reviewed.
|
3698449 |
1986 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By cloning the endpoints of a DMD-associated deletion, we have "jumped" 1100 kb from pERT87-1 (DSX164) to a new locus designated J66 (DXS268), mapping distally within the Duchenne muscular dystrophy (DMD) gene.
|
2896627 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Since the donor of one of these biopsies has a large deletion of the 5'-region of the DMD gene, our results argue against the recent proposal that nebulin is the gene mutated in DMD.
|
3678494 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DNA prepared from these hybrids was probed with sequences physically close to the locus; these include a junction fragment from the site of the X:21 translocation (pXJ1) and subclones from the pERT 87 (DXS164) region which are absent in a minority of male DMD patients.
|
3594934 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This suggests that deletions in DXS164 occur approximately as frequently in BMD as they do in DMD.
|
3030926 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The segregation of DMD and the DXS164 deletion in this family illustrates the importance of extended pedigree analysis when DXS164 deletions are used to identify female carriers of the DMD gene.
|
2887110 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
A portion of the Duchenne muscular dystrophy (DMD) gene transcript from human fetal skeletal muscle and mouse adult heart was sequenced, representing approximately 25 percent of the total, 14-kb DMD transcript.
|
3659917 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
MGD |
Muscle fiber growth and necrosis in dystrophic muscles: a comparative study between dy and mdx mice.
|
3440862 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The t(X;21) translocation exchange points occurs within a large intron of 105 kb or larger, indicating that the translocation has disrupted the DMD/BMD gene to cause the disease in this patient.
|
3614347 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have named the protein dystrophin because of its identification via the isolation of the Duchenne muscular dystrophy locus.
|
3319190 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the use of two sequences from the human Duchenne muscular dystrophy (DMD) gene that cross-hybridize to mouse X-linked sequences to localize the gene homologous to DMD in the mouse.
|
3600794 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ten polymorphic DNA markers, including gene specific markers of loci DXS164 and DXS206, were tested for allele frequencies, degree of heterozygosity and linkage in 34 Finnish families with X-linked muscular dystrophy.
|
3482147 |
1987 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.
|
3607877 |
1987 |