|
Muscular Dystrophy, Duchenne
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
<b>Aim:</b> Detection of drug-induced dystrophin in patient muscle biopsy is a surrogate outcome measure for Duchenne muscular dystrophy.
|
31379197 |
2019 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
(+)-Negamycin, a natural dipeptide-like antibiotic, may restore some dystrophin expression in the skeletal muscles of mice with Duchenne muscular dystrophy, and this compound has been recognized as a potential therapeutic agent for diseases caused by nonsense mutations.
|
28951602 |
2018 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked neuromuscular disorders associated with alterations in the dystrophin gene.
|
10094565 |
1999 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DMD is associated with an abnormal electroretinogram (ERG) if the mutation disrupts the translation of retinal dystrophin (Dp260).
|
10227401 |
1999 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne Muscular Dystrophy (DMD) originates from deleterious mutations in the dystrophin gene, with a complete loss of the protein product.
|
11525743 |
2001 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle wasting disease caused by the absence of a muscle cytoskeletal protein, dystrophin.
|
11726694 |
2001 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle degeneration that results from the absence of dystrophin.
|
11734539 |
2001 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Duchenne muscular dystrophy is an X-linked disease of muscle caused by an absence of the protein dystrophin.
|
11929208 |
2002 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by the absence of dystrophin.
|
11997063 |
2002 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is a severe progressive muscle-wasting disorder caused by mutations in the dystrophin gene.
|
12235112 |
2002 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is a fatal childhood disease caused by mutations that abolish the expression of dystrophin in muscle.
|
12235137 |
2002 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD), caused by the absence of dystrophin, is associated with decreased muscle cell proliferation.
|
12732930 |
2003 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin, which triggers complex molecular and biological events in skeletal and cardiac muscle tissues.
|
12875769 |
2003 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Duchenne muscular dystrophy is a fatal childhood disease caused by mutations that abolish the expression of dystrophin in muscle.
|
15172107 |
2004 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is a lethal genetic muscle disorder caused by recessive mutations in the dystrophin gene.
|
15454965 |
2004 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-chromosomal recessive disorders caused by mutations in the dystrophin gene.
|
15655674 |
2005 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, making it a potential target for gene therapy.
|
15709034 |
2005 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused in the majority of cases by deletions of the DMD gene and are readily detectable in affected males by multiplex polymerase chain reaction (PCR).
|
15841391 |
2005 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disorder with an incidence of approximately 1 in 3500 males, caused by mutation in the DMD gene.
|
16353285 |
2005 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene (Xp21).
|
16608904 |
2006 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
DMD cultures showed significant gene expression changes, even before dystrophin is expressed.
|
16679024 |
2006 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is a genetic disease caused by mutations in the dystrophin gene and characterized by progressive skeletal muscle degeneration.
|
16874448 |
2006 |
|
Muscular Dystrophy, Duchenne
|
1.000 |
Biomarker
|
disease |
BEFREE |
Duchenne muscular dystrophy (DMD) is a common X-linked disease resulting from the absence of dystrophin in muscle.
|
17185606 |
2007 |