Affinage

DYSF

Dysferlin · UniProt O75923

Length
2080 aa
Mass
237.3 kDa
Annotated
2026-06-09
65 papers in source corpus 11 papers cited in narrative 13 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

Dysferlin (DYSF) is a C-terminally membrane-anchored, multi-C2-domain protein that governs calcium-dependent plasma membrane resealing in striated muscle and is the gene mutated in dysferlinopathy (PMID:11234777, PMID:14678801). Its architecture includes an inner DysF domain whose fold is held in a defined conformation by parallel ring/guanidinium stacking, perpendicular H-bond stacking, and aliphatic packing of aromatic and arginine residues, as resolved by crystallography of the human domain; most pathogenic point mutations cluster here and disrupt these stabilizing stacks (PMID:24438169). Beyond local folding, the membrane-resealing function tolerates removal of certain regions: in-frame deletion of exons 26–27 or 28–29 by antisense oligonucleotide skipping preserves core repair activity in patient cells (PMID:30439648), whereas an exon-38 missense lesion drives dysferlin aggregation, amyloid formation, and progressive muscle wasting that is partially rescued by splice-switching exon skipping in vivo (PMID:30292141). In human iPSC-derived 3D myobundles, dysferlin loss compromises contractility, calcium handling, membrane repair, mitochondrial function and lipid handling, with ryanodine-receptor-mediated Ca²⁺ leak identified as a central driver since RyR inhibition by dantrolene restores these phenotypes (PMID:38887849). Dysferlin also maintains cardiomyocyte T-tubule integrity and excitation–contraction coupling, with knockout hearts showing reduced T-tubule density, blunted Ca²⁺ transients and arrhythmia susceptibility. In myeloid cells, dysferlin enhances monocyte/macrophage phagocytosis, migration and activation (PMID:35460889). Multiple pathogenic alleles act not by direct coding change but by disrupting splicing, including exon-50 missense variants that induce exon skipping and an in-frame deletion (PMID:38903757).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2001 Medium

    Establishing dysferlin's domain architecture and a natural deficiency model anchored the gene to muscle disease and defined its multi-C2/transmembrane organization.

    Evidence cDNA cloning and genomic sequencing of mouse dysferlin and the SJL splice-site mutation

    PMID:11234777

    Open questions at the time
    • Does not define the molecular function of individual C2 domains
    • Ortholog characterization; human protein function not directly tested here
  2. 2003 Low

    Linking dysferlin to calcium-induced membrane fusion gave the gene a candidate cellular function in sarcolemmal repair.

    Evidence Functional analysis in dysferlin-deficient patient muscle cells

    PMID:14678801

    Open questions at the time
    • Role asserted without detailed mechanistic assay in the record
    • Does not identify the fusion machinery dysferlin engages
  3. 2003 Medium

    Identifying a dysferlin–caveolin-3 relationship placed dysferlin in a sarcolemmal protein network.

    Evidence Morphological, immunohistochemical and EM analysis of patient muscle biopsies showing secondary caveolin-3 reduction

    PMID:14673575

    Open questions at the time
    • No direct biochemical pulldown described
    • Cannot distinguish direct interaction from secondary co-regulation
  4. 2008 Medium

    NMR of the ferlin inner DysF domain provided the first structural rationale for how pathogenic mutations destabilize the fold.

    Evidence NMR solution structure of the myoferlin inner DysF domain used as a proxy for dysferlin

    PMID:18495154

    Open questions at the time
    • Structure is of the paralogue myoferlin, not dysferlin
    • Does not test mutation effects experimentally
  5. 2014 High

    A high-resolution human dysferlin DysF structure defined the precise stacking interactions whose disruption explains disease-causing point mutations.

    Evidence 1.9 Å X-ray crystal structure of the human dysferlin inner DysF domain

    PMID:24438169

    Open questions at the time
    • Single-domain structure; full-length architecture unresolved
    • Functional consequence of stacking loss not assayed in cells
  6. 2016 Low

    Simulations reframed R959W as altering a binding-site 'pincer' motion rather than causing unfolding, proposing the DysF domain mediates membrane recruitment.

    Evidence Microsecond molecular dynamics, binding-site prediction and principal component analysis

    PMID:26806107

    Open questions at the time
    • Computational only, no experimental validation
    • Predicted binding partner unidentified
  7. 2018 Medium

    Functional mapping showed core membrane-resealing activity is preserved when specific exons are removed, defining dispensable regions and a therapeutic exon-skipping strategy.

    Evidence Membrane-wounding assays with exon-skipping ASOs and mutant DYSF constructs in patient cells

    PMID:30439648

    Open questions at the time
    • Does not quantify long-term in vivo efficacy
    • Other dysferlin functions of these exons untested
  8. 2018 Medium

    An exon-38 missense knock-in revealed that some mutations cause dysferlin aggregation/amyloid in addition to repair failure, expanding the disease mechanism beyond simple loss-of-function.

    Evidence MMex38 knock-in mouse with membrane repair and amyloid readouts plus U7 snRNA exon skipping in vivo

    PMID:30292141

    Open questions at the time
    • Mechanism of aggregation toxicity not resolved
    • Single model and lab
  9. 2022 Medium

    Demonstrating that dysferlin drives monocyte/macrophage phagocytosis, migration and activation established a myeloid role beyond muscle.

    Evidence Methylation analysis, THP-1 knockdown/overexpression functional assays, WGCNA and Apoe−/− mouse

    PMID:35460889

    Open questions at the time
    • SELL identified as downstream target but mechanism of regulation unclear
    • Relationship to muscle function not addressed
  10. 2024 High

    A human iPSC myobundle model identified RyR-mediated Ca²⁺ leak as a central, pharmacologically reversible driver linking dysferlin loss to contractile, mitochondrial and lipid defects.

    Evidence 3D hiPSC skeletal myobundles with Ca²⁺ imaging, contractility, repair assays, transcriptomics and dantrolene/vamorolone rescue

    PMID:38887849

    Open questions at the time
    • How dysferlin loss triggers RyR leak mechanistically is undefined
    • Long-term and in vivo translation not established
  11. 2024 Medium

    Cardiomyocyte studies extended dysferlin's role to T-tubule maintenance and excitation-contraction coupling, with arrhythmia susceptibility on knockout.

    Evidence Global dysferlin-KO mouse with T-tubule imaging, Ca²⁺ transients, ex vivo electrical mapping and hypo-osmotic stress (preprint)

    Open questions at the time
    • Preprint, not peer-reviewed
    • Molecular basis of T-tubule maintenance unresolved
  12. 2024 Medium

    Splicing assays of exon-50 variants showed pathogenicity can arise from disrupted splicing rather than coding change, refining genotype interpretation.

    Evidence In vivo splicing and in vitro minigene assays with WES/Sanger confirmation

    PMID:38903757

    Open questions at the time
    • Functional consequence of the 32-aa deletion on protein activity not assayed
    • Limited to two adjacent variants
  13. 2025 Medium

    Macrophage gain/loss-of-function work tied dysferlin to M1 polarization and STAT1 signaling, connecting its myeloid role to inflammation and inhibition of myogenesis.

    Evidence DYSF overexpression/knockdown in macrophages with Ca²⁺ influx, STAT1 assays and macrophage–myoblast co-culture (preprint)

    Open questions at the time
    • Preprint, not peer-reviewed
    • Direct molecular link between dysferlin and STAT1 not established

Open questions

Synthesis pass · forward-looking unresolved questions
  • How dysferlin's C2 domains and DysF domain mechanistically couple Ca²⁺ sensing to membrane fusion, partner recruitment, and RyR-dependent calcium control remains unresolved.
  • No full-length structure or defined fusion machinery
  • Direct binding partners of the DysF domain unidentified
  • Mechanism connecting dysferlin loss to RyR Ca²⁺ leak unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008289 lipid binding 2 GO:0140313 molecular sequestering activity 2
Localization
GO:0005886 plasma membrane 3
Pathway
R-HSA-168256 Immune System 2 R-HSA-397014 Muscle contraction 2
Partners
CAV3RYR1

Evidence

Reading pass · 13 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 Mouse dysferlin (ortholog of human DYSF) contains six C2 domains and a C-terminal transmembrane anchoring domain; the SJL mouse strain harbors a splice-site mutation causing exon skipping and dysferlin deficiency, establishing it as a natural model of dysferlinopathy. cDNA cloning, genomic sequencing, sequence analysis of SJL mutation Neuroreport Medium 11234777
2003 Dysferlin has a role in calcium-induced membrane fusion and repair in skeletal muscle, as inferred from functional studies in dysferlin-deficient patient cells. Functional analysis in dysferlin-deficient patient muscle cells Neuromuscular disorders : NMD Low 14678801
2003 Dysferlin and caveolin-3 interact in human skeletal muscle; secondary reduction of caveolin-3 was detected in dysferlin-deficient (LGMD2B/MM) patients, providing evidence for a dysferlin–caveolin-3 interaction. Clinical morphological analysis, immunohistochemistry, electron microscopy in patient muscle biopsies Journal of neurology Medium 14673575
2008 The inner DysF domain of the ferlin family (solved by NMR for myoferlin as structural proxy for dysferlin) has a unique fold stabilized by stacking interactions between arginine and tryptophan residues; pathogenic mutations in dysferlin disrupt this stacking, explaining their disease-causing mechanism. NMR solution structure determination of inner DysF domain of myoferlin (dysferlin paralogue) with comparison to dysferlin pathogenic mutations Journal of molecular biology Medium 18495154
2014 Crystal structure of the human dysferlin inner DysF domain at 1.9 Å resolution shows that the domain is held in a folded conformation by aromatic/arginine stacks (parallel ring/guanidinium stacking, perpendicular H-bond stacking, and aliphatic chain packing); most pathogenic point mutations disrupt these stacking interactions. X-ray crystallography (1.9 Å resolution crystal structure) BMC structural biology High 24438169
2016 Pathogenic mutation R959W in the dysferlin inner DysF domain does not cause local unfolding but instead inhibits a 'pincer motion' of a predicted protein-binding site (residues T958–I966 and E1031–H1037), locking the domain in an open state and altering its recognition dynamics, suggesting the inner DysF domain recruits dysferlin to the plasma membrane for membrane repair. Microsecond molecular dynamics (MD) simulations, protein binding-site prediction, Cartesian principal component analysis Molecular bioSystems Low 26806107
2018 Plasma membrane resealing function of dysferlin can be partially maintained by in-frame deletion of exons 26–27 or 28–29; antisense oligonucleotide-mediated multi-exon skipping of these exons rescues membrane repair in patient cells, demonstrating these regions are dispensable for core membrane-resealing activity. Membrane wounding assay, antisense oligonucleotide exon skipping, plasmid constructs with mutant DYSF in patient cells Molecular therapy. Nucleic acids Medium 30439648
2018 A missense mutation in dysferlin exon 38 (analogous to human DYSF p.Leu1341Pro) causes dysferlin aggregation and amyloid formation in addition to defects in sarcolemmal membrane repair and progressive muscle wasting; exon 37/38 skipping via U7 snRNA-based splice switching partially rescues the phenotype in vivo. Knock-in mouse model (MMex38), membrane repair assay, amyloid staining, U7 snRNA exon skipping in vivo Molecular therapy. Nucleic acids Medium 30292141
2022 DYSF promoter hypermethylation upregulates DYSF expression; elevated dysferlin in monocytes/macrophages enhances phagocytosis, migration, and adhesion of THP-1 cells, and promotes monocyte activation; SELL was identified as a downstream target of DYSF in this pathway. Methylation analysis of peripheral blood leukocytes, THP-1 DYSF knockdown and overexpression, phagocytosis/transwell/adhesion assays, WGCNA, Apoe−/− mouse model Translational research Medium 35460889
2024 Dysferlin regulates membrane resealing, calcium homeostasis, and lipid metabolism in skeletal muscle; loss of dysferlin in hiPSC-derived 3D myobundles results in compromised contractile function, impaired calcium handling, defective membrane repair, mitochondrial dysfunction, and lipid droplet accumulation; intracellular Ca²⁺ leak via ryanodine receptor (RyR) is a critical driver of dysferlinopathic contractile and metabolic phenotypes, as RyR inhibition with dantrolene restores contractility, improves membrane repair, and reduces lipid accumulation. 3D tissue-engineered hiPSC-derived skeletal muscle myobundle model, Ca²⁺ imaging, contractility assays, membrane repair assay, transcriptomics, RyR inhibitor (dantrolene) treatment, vamorolone treatment Advanced science High 38887849
2024 Loss of dysferlin in cardiomyocytes reduces T-tubule density, decreases systolic Ca²⁺ transient amplitude and rate of decay, and narrows the dyadic cleft; dysferlin-knockout hearts are more susceptible to ventricular arrhythmias; dysferlin is required for T-tubule integrity during hypo-osmotic stress, and cardiac dysferlin abundance declines naturally with age. Global dysferlin knockout mouse, T-tubule imaging, Ca²⁺ transient measurements, electrical mapping of ex vivo hearts, hypo-osmotic shock injury in vitro bioRxivpreprint Medium
2025 DYSF overexpression in macrophages promotes M1-type polarization, inflammatory cytokine secretion, and cell invasion via regulation of Ca²⁺ influx and activation of the STAT1 signaling pathway; DYSF deficiency suppresses Ca²⁺ influx and STAT1 activation; macrophages overexpressing DYSF inhibit myoblast differentiation in co-culture. DYSF overexpression and knockdown in macrophages, Ca²⁺ influx measurement, STAT1 activation assay, co-culture of macrophages and myoblasts, cytokine secretion assay bioRxivpreprint Medium
2024 Two adjacent homozygous missense mutations in DYSF exon 50 (c.5628C>A p.D1876E and c.5633A>T p.Y1878F) cause exon 50 skipping, resulting in a 32-amino acid deletion in the protein; in vivo splicing assay and in vitro minigene assay demonstrated that c.5628C>A specifically disrupts splicing while c.5633A>T does not. In vivo splicing assay, in vitro minigene assay, whole-exome sequencing, Sanger sequencing, bioinformatics splice prediction Frontiers in genetics Medium 38903757

Source papers

Stage 0 corpus · 65 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2009 Analysis of the DYSF mutational spectrum in a large cohort of patients. Human mutation 99 18853459
2005 Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Human mutation 99 16010686
1996 Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. American journal of human genetics 80 8808603
2001 Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromuscular disorders : NMD 64 11166162
1996 Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics 53 8617508
2005 Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Archives of neurology 51 16087766
2001 Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation. Neuroreport 45 11234777
1995 Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region. Genomics 43 7665169
2003 Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Neuromuscular disorders : NMD 41 14678801
2020 The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain. Human mutation 39 32400077
2018 Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy. Molecular therapy. Nucleic acids 39 30439648
2011 UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene. Human mutation 38 22213072
2017 Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B. Journal of lipid research 36 29175948
2014 Crystal structures of the human Dysferlin inner DysF domain. BMC structural biology 36 24438169
2004 [A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy]. Rinsho shinkeigaku = Clinical neurology 36 15293763
2008 Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. Journal of molecular biology 34 18495154
2003 Variable reduction of caveolin-3 in patients with LGMD2B/MM. Journal of neurology 31 14673575
2014 Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. Neuromuscular disorders : NMD 28 25176504
2018 Exon Skipping in a Dysf-Missense Mutant Mouse Model. Molecular therapy. Nucleic acids 21 30292141
2012 Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy. Neuromuscular disorders : NMD 21 22297152
2022 DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene. Translational research : the journal of laboratory and clinical medicine 20 35460889
1998 Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. Genomics 17 9570945
2021 Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients. Genetics in medicine : official journal of the American College of Medical Genetics 16 33927379
2015 Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. Human mutation 16 26077327
2006 Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. Neuromuscular disorders : NMD 16 17129727
2015 Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. Journal of neuromuscular diseases 13 25821721
2006 Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. Journal of Korean medical science 13 16891820
2009 Novel DYSF mutations in Thai patients with distal myopathy. Clinical neurology and neurosurgery 12 19493611
2025 Multiple sclerosis severity variant in DYSF-ZNF638 locus associates with neuronal loss and inflammation. iScience 11 40352730
2024 Bioengineered Model of Human LGMD2B Skeletal Muscle Reveals Roles of Intracellular Calcium Overload in Contractile and Metabolic Dysfunction in Dysferlinopathy. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 11 38887849
2024 Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities. International journal of molecular sciences 10 38891760
2022 Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy. Neuropathology and applied neurobiology 10 35962550
2019 DYSF expression in clear cell renal cell carcinoma: A retrospective study of 2 independent cohorts. Urologic oncology 10 31377166
1998 The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy (LGMD2B). Biochimica et biophysica acta 10 9805007
2021 Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective. Human mutation 9 34559919
2018 A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy. Neuropathology : official journal of the Japanese Society of Neuropathology 8 29799141
2010 Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients. Genetic testing and molecular biomarkers 7 19929428
2003 Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus. Neurogenetics 7 12836053
2023 Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review. Genes 6 36672942
2023 Dual Adeno-Associated Virus 9 with Codon-Optimized DYSF Gene Promotes In Vivo Muscle Regeneration and May Decrease Inflammatory Response in Limb Girdle Muscular Dystrophy Type R2. International journal of molecular sciences 6 37686363
2022 A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B. International journal of molecular sciences 6 36012197
2016 Pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain. Molecular bioSystems 6 26806107
2012 DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. Clinical neurology and neurosurgery 6 23254335
2020 Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family. The journal of gene medicine 5 32889728
2021 Therapeutic Benefit of Galectin-1: Beyond Membrane Repair, a Multifaceted Approach to LGMD2B. Cells 4 34831431
2015 Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf (tm1Kcam). Skeletal muscle 4 26464793
2021 Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis. Archives of gynecology and obstetrics 3 33987686
2020 Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report. Medicine 3 32664072
2024 Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities. Frontiers in genetics 2 38903757
2023 Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan. Molecular genetics & genomic medicine 2 37553796
2023 Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy. Advanced biomedical research 2 37564451
2020 Next-generation sequencing identified a novel DYSF variant in a patient with limb-girdle muscular dystrophy type 2B: A case report. Medicine 2 33031319
2025 Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family. International journal of genomics 1 40740503
2024 Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report. Heliyon 1 39170343
2023 In Vivo DYSF Gene Viral Delivery Provides a Histoprotective Effect in Skeletal Muscle Tissue in Dysferlin-Deficient Mice. Bulletin of experimental biology and medicine 1 37160600
2023 A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene. Frontiers in neurology 1 37830096
2022 Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene. Child neurology open 1 36419651
2018 [Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 30098242
2017 Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy. Saudi medical journal 1 29209666
2026 DYSF gene variant spectrum in Arab populations across eight countries: A systematic review. Biomolecules & biomedicine 0 41677014
2025 In Vitro Correction of Point Mutations in the DYSF Gene Using Prime Editing. International journal of molecular sciences 0 40565111
2025 Uncovering compound heterozygous DYSF variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. Frontiers in genetics 0 41040662
2024 A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report. BMC musculoskeletal disorders 0 38539162
2023 Unexpected extra exon skipping in the DYSF gene during restoring the reading frame by CRISPR/Cas9. Bio Systems 0 37944631
2023 High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil. Current genomics 0 38235354

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