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Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results
Limb-girdle muscular dystrophy 2E/R4 is caused by mutations in the β-sarcoglycan ( SGCB ) gene, leading to SGCB deficiency and consequent muscle loss....
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Effects of Glucocorticoids in Murine Models of Duchenne and Limb-Girdle Muscular Dystrophy
In vivo testing of glucocorticoid steroids in dystrophic mice offers important insights in benefits and risks of those drugsDrugs in the pathological...
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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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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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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 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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A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients
Twelve patients from seven unrelated South Indian families with a limb-girdle muscular dystrophy-congenital myasthenic syndrome (LGMD/CMS) phenotype...
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Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients
In the second most common dystrophy associated with predominant pelvic and shoulder girdle muscle weakness termed Limb-Girdle Muscular Dystrophy...
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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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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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Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a high-prevalence autosomal dominant neuromuscular disease characterized by significant...
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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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MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders
Neuromuscular disorders (NMD) are a class of progressive disorders that are characterized by wasting of the muscles. Some of the disorders like...
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Morpholino-Mediated Exons 28–29 Skip** of Dysferlin and Characterization of Multiexon-skipped Dysferlin using RT-PCR, Immunoblotting, and Membrane Wounding Assay
Dysferlinopathies are a group of disabling muscular dystrophiesMuscular dystrophies that includes limb girdle muscular dystrophy type 2B...
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A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy
Mutations in the DNAJB6 gene cause limb girdle muscular dystrophy D1 (LGMD D1) and distal myopathy with rimmed vacuoles. With the discovery of new...
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Long-Term Biodistribution and Safety of Human Dystrophin Expressing Chimeric Cell Therapy After Systemic-Intraosseous Administration to Duchenne Muscular Dystrophy Model
Duchenne muscular dystrophy (DMD) is a lethal disease caused by X-linked mutations in the dystrophin gene. Dystrophin deficiency results in...
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Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10
BackgroundLimb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness....
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Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview
Muscular dystrophies encompass a wide and heterogeneous subset of hereditary myopathies that manifest by the structural or functional abnormalities...