Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
We studied dystrophin in three young girls with a sporadic myopathy of early onset, manifested by mild to severe limb weakness, calf hypertrophy, high serum creatine kinase, normal karyotype, and morphologic features in muscle consistent with muscular dystrophy.
|
1714059 |
1991 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
As there is evidence that apoptosis is part of muscle fibre loss in dystrophin-deficient mdx-mice, apoptotic muscle fibre death may also play a role in humans with muscular dystrophies.
|
9292873 |
1997 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes coding for dystrophin, for alpha, beta, gamma, and delta-sarcoglycans, or for the alpha2 chain of the basement membrane component merosin (laminin-2/4) cause various forms of muscular dystrophy.
|
9312189 |
1997 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
To begin to establish the rates of false positives (secondary deficiencies), we used immunofluorescence to screen 30 Italian dystrophin-normal muscular dystrophy patient biopsies and identified 4 patients with partial alpha-sarcoglycan deficiency and 2 patients with complete deficiency.
|
8866424 |
1996 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
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 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Currently, multiplex ligation-dependent probe amplification (MLPA) has been recognized as the most powerful and convenient method to identify exon deletions or duplications in the dystrophin gene, the mutation of which causes Duchenne and Becker muscular dystrophies (DMD/BMD).
|
19473085 |
2009 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have analyzed a series of 35 DNA samples from patients affected with cystic fibrosis (CF), Duchenne and Becker muscular dystrophies (DMD/BMD), or sarcoglycanopathies, and have characterized exonic copy-number changes that have been validated with other methods.
|
18683213 |
2008 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease.
|
26911353 |
2016 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
LVhMyoD transduced cells readily formed striated, multinucleate myotubes expressing a wide range of genes associated with muscular dystrophy (dystrophin, dysferlin, sarcoglycans, caveolin-3) and congenital myopathy (nebulin, actin, desmin, tropomyosin, troponin).
|
17303423 |
2007 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding for the intracellular protein dystrophin cause severe forms of muscular dystrophy.
|
30360568 |
2018 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have been identified that are involved in various muscle-wasting and neuromuscular disorders.
|
23671309 |
2013 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
CTD_human |
Mutations in the dystrophin gene that lead to the expression of truncated forms of the dystrophin protein cause muscular dystrophies of varying severities both in humans and in mice.
|
10797403 |
2000 |
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We observed that hASCs injected systemically into the dog cephalic vein are able to reach, engraft, and express human dystrophin in the host GRMD dystrophic muscle up to 6 months after transplantation.
|
23168016 |
2012 |
Muscular Dystrophy
|
0.500 |
Therapeutic
|
disease |
CTD_human |
Systemic administration of micro-dystrophin restores cardiac geometry and prevents dobutamine-induced cardiac pump failure.
|
17440445 |
2007 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Dystrophin is bound to a complex of proteins in the muscle membrane, and primary abnormalities of these proteins have now been identified as the cause of some autosomally inherited forms of muscular dystrophy.
|
9259292 |
1997 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing of Duchenne and Becker muscular dystrophies (DMD/BMD) is a difficult task due to the occurrence of deletions or duplications within dystrophin (DMD) gene that requires dose sensitive tests.
|
16297882 |
2006 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Deletions within the dystrophin gene (DMD) account for >70% of mutations leading to Duchenne and Becker muscular dystrophies (DMD and BMD).
|
16891620 |
2006 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results suggest that primary adhalin deficiency in patients with muscular dystrophy but normal dystrophin is relatively infrequent, and that adhalin-deficient patients are not restricted to the French population.
|
7668821 |
1995 |
Muscular Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
When transplanted into severe combined immune deficient-X-linked, mouse muscular dystrophy (scid-mdx) mice, pericyte-derived cells colonize host muscle and generate numerous fibres expressing human dystrophin.
|
17293855 |
2007 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Current understanding of dystrophin-related muscular dystrophy and therapeutic challenges ahead.
|
16934185 |
2006 |
Muscular Dystrophy
|
0.500 |
Therapeutic
|
disease |
CTD_human |
Mutations in the dystrophin gene that lead to the expression of truncated forms of the dystrophin protein cause muscular dystrophies of varying severities both in humans and in mice.
|
10797403 |
2000 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The genetic defects associated with muscular dystrophy include mutations in dystrophin and its associated glycoproteins, the sarcoglycans.
|
10679964 |
2000 |
Muscular Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Deficiencies of adhalin in a particular form of limb-girdle muscular dystrophy, and of merosin in a particular form of congenital muscular dystrophy as well as the newly discovered principle of abnormal tri-nucleotide repeats in myotonic dystrophy are evidence of progress that has also amplified the notion of the dystrophinopathies that the protein-deficient muscular dystrophies can now be considered examples of contributions of the dystrophin-glycoprotein complex across the muscle fiber plasma membrane.
|
8795845 |
1996 |
Muscular Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
|
27750387 |
2017 |