|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The mild end of the spectrum includes the phenotype of the muscle cramps with myoglobinuria and isolated quadriceps myopathy, while at the severe end, there are progressive muscle diseases that are classified as Duchenne / Becker muscular dystrophy (DMD/BMD).
|
25416089 |
2015 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
|
20485447 |
2010 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Together these two multiplex assays detect over 70% of all mutations in the dystrophin gene, greatly simplifying and partly automating molecular diagnosis in Duchenne and Becker muscular dystrophy.
|
8818939 |
1996 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male.
|
2227948 |
1990 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Carrier detection in non-deletional Duchenne/Becker muscular dystrophy families using polymorphic dinucleotide (CA) repeat loci of dystrophin gene.
|
11280167 |
2001 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A broad mutational spectrum in the dystrophin (<i>DMD</i>) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD).
|
28972564 |
2017 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Small mutations are the cause of the disease in one third of cases of Duchenne and Becker muscular dystrophy (DMD/BMD).
|
10573008 |
2000 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by large deletions or duplications in two-thirds of the cases.
|
19409785 |
2009 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.
|
1785656 |
1991 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
|
26911353 |
2016 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Proportion and pattern of dystrophin gene deletions in north Indian Duchenne and Becker muscular dystrophy patients.
|
9048922 |
1997 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dystrophin gene cause Duchenne and Becker muscular dystrophy in humans and syndromes in mice, dogs, and cats.
|
22239881 |
2012 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne/Becker muscular dystrophy (DMD/BMD) is a severe X-linked myopathy.
|
8737397 |
1996 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
X-linked recessive Duchenne/Becker muscular dystrophy has been shown to caused by loss of function of the dystrophin product.
|
8215981 |
1993 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
|
18752307 |
2008 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In 2 females with OTC deficiency, we also found 2 large heterozygous deletions of approximately 7.4 Mb and 9 Mb on the short arm of the X chromosome extending from sequences telomeric to the DMD gene [dystrophin (muscular dystrophy, Duchenne and Becker types)] to sequences within or centromeric to the OTC gene (ornithine carbamoyltransferase).
|
18487280 |
2008 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One hundred thirty-eight patients with Duchenne/Becker muscular dystrophy (DMD/BMD) were screened with complete cDNA probes and the multiplex polymerase chain reaction (mPCR) amplification of 18 pairs of oligonucleotide primers.
|
10465346 |
1999 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Fifty unrelated Japanese patients with Duchenne and Becker muscular dystrophy (DMD and BMD) have been studied through use of the dystrophin cDNA probes.
|
1863988 |
1991 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophy (DMD and BMD) are X-chromosomal recessive neuromuscular disorders that are caused by mutations in the dystrophin gene and characterized by cardiac involvement.
|
27150296 |
2016 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscular dystrophies.
|
12102170 |
2002 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy.
|
16122626 |
2005 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy.
|
1731332 |
1992 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
DNA probes complementary (cDNA) to the Duchenne/Becker muscular dystrophy gene product, dystrophin, can detect molecular deletions in 60-70% of affected subjects.
|
2563842 |
1989 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Polymorphic loci that lie at the two extremities of the Duchenne/Becker muscular dystrophy (DMD/BMD) gene have been used to estimate intragenic recombination rates.
|
1974880 |
1990 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have designed a multiplex ligation-dependent probe amplification (MLPA) assay to simultaneously screen all 79 DMD gene exons for deletions and duplications in Duchenne and Becker muscular dystrophy (DMD/BMD) patients.
|
16030524 |
2005 |