|
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 |
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 |
GeneticVariation
|
phenotype |
BEFREE |
We report here a case of dystrophinopathy in a 9-years-old boy with a 2-bp deletion in exon 74 of the dystrophin gene; however, the boy had no clear clinical signs of muscle weakness.
|
18430534 |
2009 |
|
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 |
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 |
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 |
GeneticVariation
|
phenotype |
BEFREE |
We have previously shown in a large X-linked pedigree that a deletion removing the dystrophin muscle promoter, the first muscle exon and part of intron 1 caused a severe dilated cardiomyopathy with no associated muscle weakness.
|
7635962 |
1995 |
|
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 on the X-chromosome result in progressive skeletal muscle weakness as the main clinical manifestation.
|
30119965 |
2018 |
|
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.
|
12868501 |
2003 |
|
Muscle Weakness
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We recently described a family where a deletion of the dystrophin gene was associated with a severe dilated cardiomyopathy without skeletal muscle weakness.
|
7825571 |
1995 |
|
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
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 |
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 |
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 |
The almost complete loss of dystrophin isoform Dp427 causes a multi-system pathology that features in addition to skeletal muscle weakness also late-onset cardio-respiratory deficiencies, impaired metabolism and abnormalities in the central nervous system.
|
31359811 |
2019 |
|
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 |
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 |
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 |
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 |
The absence of dystrophin protein leads to progressive muscle weakness and wasting, disability and death.
|
23784375 |
2013 |
|
Muscle Weakness
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
This technology has been tested in paralysed patients, such as those with cervical spinal cord injuries or amyotrophic lateral sclerosis, but it has not been tested systematically in Duchenne muscular dystrophy (DMD), which is a severe type of muscular dystrophy due to the loss of dystrophin and is often accompanied by progressive muscle weakness and wasting.
|
29379140 |
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 |
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 |
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 |