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The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies
The descriptions of muscle pathology in dysferlinopathy patients have classically included an inflammatory infiltrate that can mimic inflammatory...
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Muscular Dystrophy: Mutations in the Dystrophin Gene
Muscular dystrophy (MD) is a heterogeneous group of genetic disorders characterized by progressive muscle degeneration and weakness, leading to...
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NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China
BackgroundAt present, Multiplex ligation-dependent probe amplification (MLPA) and exome sequencing are common gene detection methods in patients with...
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Decoding Dystrophin Gene Mutations: Unraveling the Mysteries of Muscular Dystrophy
Muscular dystrophies are a group of human monogenic disorders causing muscle weaknesses and affecting mobility. Mutations in different genes cause...
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Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy
Becker muscular dystrophy (BMD) is a severe X-linked muscle disease. Age of onset, clinical variability, speed of progression and affected tissues...
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Muscular Dystrophy: Underlying Cellular and Molecular Mechanisms and Various Nanotherapeutic Approaches for Muscular Dystrophy
Muscular dystrophy (MD) corresponds to a cluster of approximately 30–40 genetically controlled diseases, which exhibit inheritance patterns that are...
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Current Strategies of Muscular Dystrophy Therapeutics: An Overview
Muscular dystrophies are a group of geneticGenetics disorders characterized by varying degrees of progressive muscle weakness and degeneration. They...
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The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of hereditary myopathy. Sixty per cent of the world’s population lives in...
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Therapeutic approaches for Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a monogenic muscle-wasting disorder and a priority candidate for molecular and cellular therapeutics. Although...
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Dystrophin- and Utrophin-Based Therapeutic Approaches for Treatment of Duchenne Muscular Dystrophy: A Comparative Review
Duchenne muscular dystrophy is a devastating disease that leads to progressive muscle loss and premature death. While medical management focuses...
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Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies
The emergence of therapies acting on specific molecular targets for Duchenne and Becker muscular dystrophies (DBMD) led to expanded access of...
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Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
Duchenne muscular dystrophy (DMD) is a devastating X-linked muscular disease, caused by mutations in the DMD gene encoding Dystrophin and affecting...
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Five multivariate Duchenne muscular dystrophy progression models bridging six-minute walk distance and MRI relaxometry of leg muscles
The study aimed to provide quantitative information on the utilization of MRI transverse relaxation time constant (MRI-T 2 ) of leg muscles in DMD...
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Regenerative Rehabilitation for Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe, progressive, genetic muscle wasting disorder arising from the absence of the membrane stabilizing...
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CRISPR-Cas9 Correction of Duchenne Muscular Dystrophy in Mice by a Self-Complementary AAV Delivery System
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder, caused by mutations in the DMD gene coding dystrophin. Applying clustered...
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Dystrophin and mini-dystrophin quantification by mass spectrometry in skeletal muscle for gene therapy development in Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a lethal, degenerative muscle disorder caused by mutations in the DMD gene, leading to severe reduction or...
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Muscular Dystrophy Therapy Using Viral Vector-based CRISPR/Cas
Duchenne muscular dystrophy (DMD) is a fatal X-linked genetic disorder caused by mutations in the DMD gene, which encodes the dystrophin protein. A...
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Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing
This manuscript aimed to determine the underlying point mutations causing Duchenne muscular dystrophy (DMD) in a heterogeneous group of Iranian...
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CRISPR/Cas9-based genome editing for the modification of multiple duplications that cause Duchenne muscular dystrophy
With the development of basic research, some genetic-based methods have been found to treat Duchenne muscular dystrophy (DMD) with large deletion...
