Analysis of Exon Skipping Applicability for Dysferlinopathies [PDF]
CellsExon skipping, mediated through antisense oligonucleotides (ASOs), is a promising approach to exclude pathogenic variants from the DYSF gene and treat dysferlinopathies.
Jamie Leckie +3 more
doaj +4 more sources
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale [PDF]
Annals of Neurology, 2021 The Jain COS Consortium.[Objective] Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical
Marni B Jacobs +2 more
exaly +3 more sources
Molecular Therapy - Nucleic Acids, 2018 Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
William J Duddy +2 more
exaly +3 more sources
Dysferlinopathy as cause of long-term hyperCKemia with preserved strength [PDF]
Orphanet Journal of Rare DiseasesBackground Dysferlin (DYSF) has a crucial role in sarcolemmal repair. While DYSF mutations commonly manifest as limb-girdle muscular dystrophy (LGMDR2) or distal Miyoshi myopathy, atypical manifestations, such as asymptomatic hyperCKemia and ...
Ikreet Cheema +5 more
doaj +2 more sources
The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments [PDF]
BiomoleculesDysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This
Saeed Anwar, Toshifumi Yokota
doaj +2 more sources
Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities [PDF]
Frontiers in GeneticsBackground: Dysferlinopathy is an autosomal recessive disorder caused by mutations in the DYSF gene. This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf ...
Lun Wang +4 more
doaj +2 more sources
Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report [PDF]
BMC Musculoskeletal DisordersBackground Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once ...
Sergey N. Bardakov +11 more
doaj +2 more sources
Enhancing the Performance of a Blood-Based Diagnostic Screening Tool for Dysferlinopathy: Optimising an Immunoassay Across Continents. [PDF]
Neuropathol Appl NeurobiolWe validated an immunohistochemical method for detecting dysferlin in neutrophils from peripheral blood films (PBFs), offering a minimally invasive alternative to muscle biopsy. In an Indian cohort, the assay showed 100% sensitivity. Specificity depended on sample quality and storage conditions.
D'Este G +6 more
europepmc +2 more sources
Pilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy [PDF]
Skeletal MuscleBackground Dysferlinopathies are a clinically heterogeneous group of muscular dystrophies caused by gene mutations resulting in deficiency of the membrane-associated protein dysferlin.
Erin M. Lloyd +10 more
doaj +2 more sources
Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. [PDF]
Eur J NeurolMuscle biopsies from patients across eight neuromuscular disorders and healthy controls were analyzed using immunofluorescence (IF) and immunoblot (WB) to evaluate the expression and localization of seven annexin proteins (A1, A2, A4, A5, A6, A7, A11).
He QF +11 more
europepmc +2 more sources