Results 51 to 60 of about 7,559 (136)
Muscular dystrophy is a genetic disorder with no definite cure. A study was carried out on 150 patients diagnosed with muscular dystrophy. These included Duchenne muscular dystrophy, limb-girdle muscular dystrophy, and Becker muscular dystrophy variants.
Alok Sharma M.S., M.Ch. +7 more
doaj +1 more source
DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B
Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B. To achieve gene delivery of plasmids encoding dysferlin to hind limb muscles of dysferlin knockout mice, we used a vascular ...
Julia Ma +4 more
doaj +1 more source
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru +16 more
wiley +1 more source
Three case series involving progresive motor deficit [PDF]
The muscular dystrophies are a group of inherited, non-inflammatory disorders, consisting of progressive muscle wasting, without peripheral or central nerve involvement.
Bogdan Pana +3 more
doaj +1 more source
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source
Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies
Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury.
Mads G. Stemmerik +5 more
doaj +1 more source
Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction
ABSTRACT Background Agrin‐congenital myasthenic syndrome (AGRN‐CMS) is a rare, heterogeneous genetic disorder of the neuromuscular transmission that can present from infancy to adulthood. The clinical phenotype includes distal weakness mimicking distal myopathies.
Mariana Manoel Oku +4 more
wiley +1 more source
Inositol polyphosphate-5-phosphatase K [INPP5K (MIM: 607875)] acts as a PIP3 5-phosphatase and regulates actin cytoskeleton, insulin, and cell migration.
Adele D’Amico +17 more
doaj +1 more source
Background Limb Girdle Muscular Dystrophy is defined as a group of progressive autosomal recessive (85%, 28 genes) and autosomal dominant (15%, 5 genes) muscular dystrophies described in at least two unrelated families, affecting individuals that achieve
Ana Cotta +21 more
doaj +1 more source
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source

