Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscle Weakness
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Dystrophin deficiency clinically manifests as skeletal and cardiac muscle weakness, leading to muscle wasting and premature death due to cardiac and respiratory failure.Currently, no cure exists.
|
31612351 |
2019 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A novel class of AONs made of tricyclo-DNA (tcDNA) is considered very promising for the treatment of Duchenne muscular dystrophy (DMD), a neuromuscular disease typically caused by frameshifting deletions or nonsense mutations in the gene-encoding dystrophin and characterized by progressive muscle weakness, cardiomyopathy, and respiratory failure in addition to cognitive impairment.
|
28918017 |
2017 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Abnormalities of dystrophin are a common cause of muscular dystrophy and testing for dystrophin gene or protein has become a part of routine diagnostic evaluation of patients who present with progressive proximal muscle weakness, high serum creatine kinase concentrations, and histopathological evidence of a dystrophic process.
|
11303236 |
2001 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Although longer term studies are needed to clarify the relationship between dystrophin restoration following therapeutic intervention and the level of circulating miRNAs, our results indicate that miR-1 and miR-133 can be considered as exploratory biomarkers for monitoring the progression of muscle weakness and indirectly the remaining muscle mass in DMD.
|
24282529 |
2013 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
An apparently identical deletion in one family gave classical BMD in two brothers (presenting in their teens) and only very mild muscle weakness in their 86-year-old great-great-uncle.
|
2821406 |
1987 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Assessment of resveratrol, apocynin and taurine on mechanical-metabolic uncoupling and oxidative stress in a mouse model of duchenne muscular dystrophy: A comparison with the gold standard, α-methyl prednisolone.
|
26930420 |
2016 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated.
|
16380627 |
2005 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Complete loss of muscle dystrophin protein causes progressive muscle weakness and heart and respiratory failure, leading to premature death.
|
23521559 |
2013 |
Muscle Weakness
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
DMD is a devastating inherited X-linked muscle disease characterized by progressive muscle weakness due to lack of dystrophin expression in muscle fiber sarcolemma.<sup>1</sup> Although the transplantation of normal myoblasts into dystrophin-deficient muscle can restore dystrophin, this approach has been hindered by limited survival (less than 1%) of the injected cells.<sup>1</sup> The fact that 99% of the cells were not surviving implantation was seen as a major weakness with this technology by most.
|
29786150 |
2019 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles.
|
29847600 |
2018 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Duchenne muscular dystrophy (DMD) affects 1:3500-1:5000 male births, and is caused by X-linked mutations in the dystrophin gene, manifested by progressive muscle weakness and wasting due to the absence of dystrophin protein, leading to degeneration of skeletal muscle.
|
29067667 |
2018 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Duchenne muscular dystrophy (DMD) is a genetic, lethal, muscle disorder caused by the loss of the muscle protein, dystrophin, leading to progressive loss of muscle fibers and muscle weakness.
|
25975656 |
2015 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Duchenne muscular dystrophy (DMD) is caused by dystrophin deficiency resulting in progressive muscle weakness and fibrotic scarring.
|
28469083 |
2017 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness caused by DMD gene mutations leading to absence of the full-length dystrophin protein in muscle.
|
25043804 |
2014 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Duchenne muscular dystrophy (DMD), caused by the absence of the protein dystrophin, is characterized as a neuromuscular disease in which muscle weakness, increased susceptibility to muscle injury, and inadequate repair appear to underlie the pathology.
|
29067656 |
2018 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Each had abnormal dystrophin immunostaining in muscle or cardiac biopsy specimens, but neither had muscle weakness.
|
9470882 |
1997 |
Muscle Weakness
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Eighteen females showing a mosaic pattern of dystrophin expression on muscle biopsy were recruited and classified as symptomatic (7) or asymptomatic (11), based on the presence or absence of muscle weakness.
|
22894145 |
2012 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
For the last 20 years, the major goal in the development of therapeutic approaches to alleviate muscle weakness in DMD has been centered on the restoration of dystrophin or proteins that are analogous to dystrophin, such as utrophin, through a variety of modalities including cell therapy, gene therapy, gene correction, and the highly promising techniques utilizing CRISPR/Cas9 technology.
|
27071500 |
2016 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle.
|
26457695 |
2015 |
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
It is speculated that overexpression of the dystrophin-related protein in regenerating muscle fibers may contribute to the slow progression of muscle weakness or atrophy.
|
8352853 |
1993 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutation to the dystrophin gene causes skeletal muscle weakness in patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD).
|
30571283 |
2019 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the DMD gene result in two common phenotypes associated with progressive muscle weakness: the more severe Duchenne muscular dystrophy (DMD) and the milder Becker muscular dystrophy (BMD).
|
19206170 |
2009 |
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the DMD gene on the X-chromosome result in progressive skeletal muscle weakness as the main clinical manifestation.
|
30119965 |
2018 |