|
Becker Muscular Dystrophy
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
194 DMD and 35 BMD patients were registered.
|
25612904 |
2015 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
31P-NMR spectroscopy of skeletal muscle in Becker dystrophy and DMD/BMD carriers. Altered rate of phosphate transport.
|
1634901 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion.
|
18639760 |
2008 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Becker muscular dystrophy in Indian patients: analysis of dystrophin gene deletion patterns.
|
18974567 |
2009 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene.
|
22006698 |
2011 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Becker muscular dystrophy (BMD) is a variant of dystrophin deficiency resulting from DMD gene mutations.
|
25322757 |
2015 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Becker muscular dystrophy (BMD) is a neuromuscular disorder allelic to Duchenne muscular dystrophy (DMD), caused by in-frame mutations in the dystrophin gene, and characterized by a clinical progression that is both milder and more heterogeneous than DMD.
|
29167533 |
2017 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Becker muscular dystrophy (BMD) is a genetic neuromuscular disease characterized by an alteration of the dystrophin protein.
|
30590561 |
2019 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin in frameshift deletion patients with Becker muscular dystrophy.
|
1496988 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin gene mutations cause 2 common muscular dystrophies, Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).
|
16246949 |
2005 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dystrophin was analysed by mixing in increasing proportions (from 0% to 100%) aliquots of solubilised muscle from BMD patients with a qualitatively abnormal dystrophin and a normal male control.
|
1640426 |
1992 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dystrophin immunohistochemistry in a symptomatic carrier of Becker muscular dystrophy.
|
1683669 |
1991 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dystrophin analysis by immunohistochemistry continues to be the most specific method for diagnosis of DMD/BMD and should be used when no exon deletions are found in the dystrophin gene in the blood.
|
17420831 |
2007 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
|
19793655 |
2009 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy while in-frame mutations lead to milder Becker muscular dystrophy.
|
23536893 |
2013 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dystrophin Hot-Spot Mutants Leading to Becker Muscular Dystrophy Insert More Deeply into Membrane Models than the Native Protein.
|
27367833 |
2016 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
BMD (DXA) was measured at spine (LS), total hip (TH) and femoral neck (FN).
|
30355512 |
2019 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin deficiency leads to the severe muscle wasting disease Duchenne Muscular Dystrophy and the milder allelic variant, Becker Muscular Dystrophy (DMD and BMD).
|
31689503 |
2020 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dystrophin tests confirmed a clinical diagnosis of BMD in the patient, i.e. faint and patchy immunostaining pattern of skeletal muscle, truncated dystrophin protein and a deletion of exons 3 and 4 of the dystrophin gene.
|
7719142 |
1995 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin analysis together with a genetic DMD locus study led us to diagnose Becker type muscular dystrophy, with truncated dystrophin and a gene deletion extending from exon 45 to 48.
|
7981595 |
1994 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Dystrophin gene mutations produce clinical manifestations of disease in the heart and skeletal muscle of patients with Becker muscular dystrophy.
|
8245351 |
1993 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dystrophin abnormalities in Duchenne and Becker dystrophy carriers: correlation with cytoskeletal proteins and myosins.
|
8263549 |
1993 |
|
Becker Muscular Dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
A 1583 bp transcript was found to be expressed in both DMD and BMD patients which was unrelated to the known dystrophin gene.
|
12577122 |
2002 |
|
Becker Muscular Dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A 400-kb tandem duplication within the dystrophin gene leads to severe Becker muscular dystrophy.
|
8006687 |
1994 |